Skip to main content
SpringerLink
Log in

Diagnosis of genetic disease using recombinant DNA

  • Review Articles
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Recombinant DNA technology promises to make an important contribution to the analysis and diagnosis of inherited human disease. Direct detection and analysis of various genetic defects at the DNA level are now possible using cloned gene or oligonucleotide probes. In addition, the use of restriction fragment length polymorphisms associated with linked DNA segments should permit not only the diagnosis of hitherto undetectable disease states but also the chromosomal localization of the loci responsible. The eventual isolation of disease loci should lead to a better understanding of the molecular basis of inherited disease.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Aisenberg AC, Krontiris TG, Mak TW, Wilkes BM (1985) Rearrangement of the gene for the beta chain of the T-cell receptor in T-cell chronic lymphocytic leukemia and related disorders. N Engl J Med 313:529–533

    Google Scholar 

  • Antonarakis SE, Kazazian H, Orkin SH (1985a) DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Gen 69:1–14

    Google Scholar 

  • Antonarakis SE, Copeland KL, Carpenter RJ, Carta CA, Hoyer LW, Caskey CT, Toole JJ, Kazazian HH (1985b) Prenatal diagnosis of haemophilia A by factor VIII gene analysis. Lancet I:1407–1409

    Google Scholar 

  • Antonarakis SE, Waber PG, Kittur SD, Patel AS, Kazazian HH, Mellis MA, Counts RB, Stamatoyannopoulos G, Bowie W, Fass DN, Pittman DD, Wozney JM, Toole JJ (1985c) Hemophilia A; detection of molecular defects and of carriers by DNA analysis. N engl J Med 313:842–848

    Google Scholar 

  • Baas F, Bikker H, Van Ommen G, Vijlder J (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet 67:301–305

    Google Scholar 

  • Baer R, Chen K-C, Smith SD, Rabbits TH (1985) Fusion of an immunoglobulin variable gene and a T-cell receptor constant gene in the chromosome 14 inversion associated with T-cell tumors. Cell 43:705–713

    Google Scholar 

  • Bakker E, Goor N, Wrogemann K, Kunkel LM, Fenton WA, Majoor-Krakaver D, Jahoda MGJ, van Ommen GJB, Hofker MH, Mandel JL, Davies KE, Willard HF, Sandkuyl L, v. Essen AJ, Sachs ES, Pearson PL (1985) Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet I:655–658

    Google Scholar 

  • Barsh GS, Roush CL, Bonadio J, Byers PH, Gelinas RE (1985) Intron-mediated recombination may cause a deletion in an α 1 type I collagen chain in a lethal form of osteogenesis imperfecta. Proc Natl Acad Sci USA 82:2870–2874

    Google Scholar 

  • Bell GI, Horita S, Karam JH (1984) A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33:176–183

    Google Scholar 

  • Berliner N, Duby AD, Morton CC, Leder P, Seidman JG (1985) Detection of a frequent restriction fragment length polymorphism in the human T cell antigen receptor beta chain locus. J Clin Invest 76:1283–1285

    Google Scholar 

  • Bernardi F, DelSenno L, Barbieri R, Buzzoni D, Gambari R, Marchetti G, Conconi F, Panicucci F, Positano M, Pitruzzello S (1985) Gene deletion in an Italian haemophilia B subject. J Med Genet 22:305–307

    Google Scholar 

  • Bertness V, Kirsch I, Hollis G, Johnson B, Bunn PA (1985) T-cell receptor gene rearrangements as clinical markers of human T-cell lymphomas. N Engl J Med 313:534–538

    Google Scholar 

  • Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips CI, McKeown CME, Jay M, Bird AC, Pearson PL, Southern EM, Evans HJ (1984) Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 309:253–255

    Google Scholar 

  • Bleeker-Wagemakers LM, Friedrich U, Gal A, Wienker TF, Warburg M, Ropers HH (1985) Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome. Hum Genet 71:211–214

    Google Scholar 

  • Bock SC, Marrinan JA (1985) Antithrombin III: identification of a Pro to Leu mutation in a highly conserved region near the thrombin reactive site. Am J Hum Genet 37:A145

    Google Scholar 

  • Bock SC, Harris JF, Schwartz CE, Ward JH, Hershgold EG, Skolnick MH (1985) Hereditary thrombosis in a Utah kindred is caused by a dysfunctional antithrombin III gene. Am J Hum Genet 37:32–41

    Google Scholar 

  • Boehm CD, Antonarakis SE, Phillips JA, Stetton G, Kazazian HH (1983) Prenatal diagnosis using DNA polymorphism. Report on 95 pregnancies at risk for sickle-cell disease or β-thalassemia. N Engl J Med 308:1054–1058

    Google Scholar 

  • Bonthron DT, Markham AF, Ginsburg D, Orkin SH (1985) Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency. J Clin Invest 76:894–897

    Google Scholar 

  • Boué J, Oberlé I, Heilig R, Mandel JL, Moser A, Moser H, Larsen JW, Dumez Y, Boué A (1985) First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe. Hum Genet 69:272–274

    Google Scholar 

  • Breakefield XO, Orloff G, Castiglione C, Coussens I, Axelrod FB, Ullrich A (1984) Structural gene for β-nerve growth factor not defective in familial dysautonomia. Proc Natl Acad Sci USA 81:4213–4216

    Google Scholar 

  • Brown CS, Pearson PL, Thomas NST, Sarfarazi M, Harper PS, Shaw DH (1985a) Linkage analysis of DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X-chromosome. J Med Genet 22:179–181

    Google Scholar 

  • Brown CS, Thomas NST, Sarfarazi M, Davies KE, Kunkel L, Pearson PL, Kingston HM, Shaw DJ, Harper PS (1985b) Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Hum Genet 71:62–74

    Google Scholar 

  • Camerino G, Mattei MG, Mattei JF, Jaye M, Mandel JL (1983) Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male. Nature 306:701–704

    Google Scholar 

  • Carlock LR, Wasmuth JJ (1985) Molecular approach to analyzing the human 5p deletion syndrome, cri du chat. Somatic Cell Mol Genet 11:267–276

    Google Scholar 

  • Caroll MC, Palsdottir A, Belt KT, Porter RR (1985) Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region. EMBO J 4:2547–2552

    Google Scholar 

  • Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC, White RL (1983) Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305:779–784

    Google Scholar 

  • Cavenee WK, Hansen MF, Nordenskjold M, Kock E, Maumenee I, Squire JA, Phillips RA, Gallie BL (1985) Genetic origin of mutations predisposing to retinoblastoma. Science 228:501–503

    Google Scholar 

  • Chang JC, Kan YW (1982) A sensitive new prenatal test for sickle cell anemia. N Engl J Med 307:30–32

    Google Scholar 

  • Chen SH, Kurachi K, Yoshitake S, Chance PF (1985) Point mutation and intragenic deletion of factor IX gene as a cause of hemophilia B. Am J Hum Genet 37:A7

    Google Scholar 

  • Choo KH, George D, Eilby G, Halliday JL, Leversha M, Webb G, Danks DM (1984) Linkage analysis of X-linked mental retardation with and without fragile-X using factor IX gene probe. Lancet II:349

    Google Scholar 

  • Chu M-L, Williams CJ, Pepe G, Hirsch JL, Prockop DJ, Ramirez R (1983) Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature 304:78–80

    Google Scholar 

  • Chu M-L, Gargiulo V, Willams CJ, Ramirez F (1985) Multi-exon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA. J Biol Chem 260:691–694

    Google Scholar 

  • Cole FS, Whitehead AS, Auerbach HS, Perlmutter DH, Lint TF, Zeitz HJ, Colten HR (1984) Molecular basis of the genetic deficiency of the second component of complement (C2) in the human. J Cell Biol 99:330a

    Google Scholar 

  • Cole FS, Whitehead AD, Auerbach HS, Lint T, Zeitz HJ, Kilbridge P, Colten HR (1985) The molecular basis for genetic deficiency of the second component of human complement. N Engl J Med 313:11–16

    Google Scholar 

  • Conner BJ, Reyes AA, Morin C, Itakura K, Teplitz RL, Wallace RB (1983) Detection of sickle cell 8-1 allele by hybridization with synthetic oligonucleotides. Proc Natl Acad Sci USA 80:278–282

    Google Scholar 

  • Cooper DN, Schmidtke J (1984) DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet 66:1–16

    Google Scholar 

  • Cooper DN, Smith BA, Cooke HJ, Niemann S, Schmidtke J (1985) An estimate of unique DNA sequence heterozygosity in the human genome. Hum Genet 69:201–205

    Google Scholar 

  • Cox DW, Mansfield T (1985) Prenatal diagnosis for alpha 1-antitrypsin deficiency. Lancet I:230

    Google Scholar 

  • Darby JK, Feder J, Selby M, Riccardi V, Ferrell R, Siao D, Goslin K, Rutter W, Shooter EM, Cavalli-Sforza LL (1985) A discordant sibship analysis between β-NGF and neurofibromatosis. Am J Hum Genet 37:52–59

    Google Scholar 

  • Davies KE, Pearson PL, Harper PS, Murray JM, O'Brien TO, Sarfarazi M, Williamson R (1983a) Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res 11:2303–2312

    Google Scholar 

  • Davies KE, Jackson J, Williamson R, Harper PS, Ball S, Sarfarazi M, Meredith L, Fey G (1983b) Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. J Med Genet 20:259–263

    Google Scholar 

  • Davies KE, Briand P, Ionasescu V, Ionasescu G, Williamson R, Brown C, Cavard C, Cathelineau L (1985a) Gene for OTC: characterization and linkage to Duchenne muscular dystrophy. Nucleic Acids Res 13:155–165

    Google Scholar 

  • Davies KE, Mattei MG, Mattei JF, Veenema H, McGlade S, Harper K, Tommerup N, Nielsen KB, Mikkelsen M, Beighton P, Drayna D, White R, Pembrey ME (1985b) Linkage studies of X-linked mental retardation: high frequency of recombination of the human X chromosome. Hum Genet 70:249–455

    Google Scholar 

  • Davies KE, Speer A, Herrmann F, Spiegler AWJ, McGlade S, Hofker MH, Briand P, Hanke R, Schwartz M, Steinbicker V, Szibor R, Korner H, Sommes D, Pearson PL, Coutelle C (1985c) Human X chromosome markers and Duchenne muscular dystrophy. Nucleic Acids Res 13:3419–3426

    Google Scholar 

  • De La Chapelle A, Sankila EM, Lindlof M, Aula P, Norio R (1985) Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis. Clin Genet 28:317–320

    Google Scholar 

  • Dilella AG, Brayton K, Woo SLD (1985) Insertional polymorphism in the human phenylalanine hydroxylase gene: characterization and application for prenatal diagnosis of PKU. Am J Hum Genet 37:A151

  • Din N, Schwartz M, Kruse T, Vestergaard SR, Ahrens P, Caput D, Hartog K, Quiroga M (1985) Factor VIII gene specific probe for prenatal diagnosis of haemophilia A. Lancet I:1446–1447

    Google Scholar 

  • Donald JA, Wallis SC, Kessling A, Tippett P, Robson EB, Ball S, Davies KE, Scambler P, Berg K, Heiberg A, Williamson R, Humphries SE (1985) Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19. Hum Genet 69:39–43

    Google Scholar 

  • Donlon TA, Lalande M, Wyman A, Bruns G, Latt SA (1985) Molecular diagnosis and analysis of chromosome 15 microdeletion and lability in the Prader-Willi Syndrome. Am J Hum Genet 37:A91

  • Dorkins H, Junien C, Mandel JL, Wrogemann K, Moison JP, Martinez M, Old JM, Bunley S, Schwartz M, Carpenter N, Hill D, Lindlof M, de La Chapelle A, Pearson PL, Davies RE (1985) Segregation analysis of a marker localised Xp21.2.-Xp21.2 in Duchenne and Becker muscular dystrophy families. Hum Genet 71:103–107

    Google Scholar 

  • Fadda S, Mochi M, Roncuzzi S, Sbarra D, Zatz M, Romeo G (1985) Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9). Hum Genet 71:33–36

    Google Scholar 

  • Farquhar M, Gelinas R, Tatsis B, Murray J, Yagi M, Mueller R, Stamatoyannopoulos G (1983) Restriction endonuclease mapping of α-δ-β-globin region in 8-2 HPFH and a Chinese 8-3 HPFG variant. Am J Hum Genet 35:611–620

    Google Scholar 

  • Fearon ER, Vogelstein B, Feinberg AP (1984) Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumour. Nature 309:176–178

    Google Scholar 

  • Fearon ER, Mallonee RL, Phillips JA, O'Brien WE, Brusilow SW, Adcock MW, Kirby LT (1985a) Genetic analysis of carbamyl phosphate synthetase I deficiency. Hum Genet 70:207–210

    Google Scholar 

  • Fearon ER, Feinberg AP, Hamilton SH, Vogelstein B (1985b) Loss of genes on the short arm of chromosome 11 in bladder cancer. Nature 318:377–380

    Google Scholar 

  • Feder J, Gurling HMD, Darby J, Cavalli-Sforza LL (1985) DNA restriction fragment analysis of the pro-opiomelanocortin gene in schizophrenia and bipolar disorders. Am J Hum Genet 37:286–294

    Google Scholar 

  • Feinberg A (1984) Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumor. Nature 309:176–178

    Google Scholar 

  • Fischbeck KH, ar-Rushdi N, Rozear M, Pericak-Vance M, Fryns JP (1985) X-linked neuropathy: gene localization with DNA probes. Am J Hum Genet 37: A153

  • Fojo SS, Law SW, Sprecher DL, Greeg RE, Baggio G, Brewer HB (1984) Analysis of the Apo C-II gene in ApoC-II deficient patients. Biochim Biophys Res Commun 24:308–313

    Google Scholar 

  • Folstein SE, Phillips JA, Meyers DA, Chase GA, Abbott MH, Franz ML, Waber PG, Kazazian HH, Conneally PM, Hobbs W, Tanzi R, Faryniarz A, Gibbons K, Gusella J (1985) Huntington's disease: two families with differing clinical features show linkage to the G8 probe. Science 229:776–779

    Google Scholar 

  • Francke U, Ochs HD, DeMartinville B, Giacalone J, Lindgren V, Distèche C, Pagon RA, Hofker MH, Van Ommen GJB, Pearson PL, Wedgewood RJ (1985) Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa and McLeod syndrome. Am J Hum Genet 37:250–267

    Google Scholar 

  • Friedrich U, Warburg M, Wieacker P, Wienker TF, Gal A, Ropers HH (1985) X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome. Hum Genet 71:93–99

    Google Scholar 

  • Gal A, Mücke J, Theile H, Wieacker PF, Ropers HH, Wienker TF (1985a) X-linked dominant Charcot-Marie-tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet 70:38–42

    Google Scholar 

  • Gal A, Stolzenberger C, Wienker T, Wieacker P, Ropers HH, Friedrich U, Bleeker-Wagemakers L, Pearson P, Warburg M (1985b) Norrie's disease: close linkage with genetic markers from proximal short arm of the X chromosome. Clin Genet 27:282–283

    Google Scholar 

  • Geever RF, Wilson LB, Nallaseth FS, Milner PF, Bittner M, Wilson JT (1981) Direct identification of sickle cell anemia by blot hybridization. Proc Natl Acad Sci USA 78:5081–5085

    Google Scholar 

  • Giannelli F, Choo KH, Rees DJG, Boyd Y, Rizza CR, Brownlee GG (1983) Gene deletions in patients with haemophilia B and anti-factor IX antibodies. Nature 303:181–182

    Google Scholar 

  • Giannelli F, Choo KH, Winship PR, Rizza CR, Anson DS, Rees DJG, Ferrari N, Brownlee GG (1984) Characterization and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency). Lancet I:239–249

    Google Scholar 

  • Gitschier J, Wood WL, Tuddenham EGD, Shuman MA, Goralka TM, Chen EY, Lawn RM (1985a) Detection and sequence of mutations in the factor VIII gene of haemophiliacs. Nature 315:427–430

    Google Scholar 

  • Gitschier J, Drayna D, Tuddenham EGD, White RI, Lawn RM (1985b) Genetic mapping and diagnosis of haemophilia A achieved through a Bcl I polymorphism in the factor VIII gene. Nature 314:738–740

    Google Scholar 

  • Grégori C, Besmond C, Odievre M, Kahn A, Dreyfus JC (1984) DNA analysis in patients with hereditary fructose intolerance. Ann Hum Genet 48:291–296

    Google Scholar 

  • Grobler-Rabie AF, Wallis G, Brebner DK, Beighton P, Bester AJ, Mathew CG (1985) Detection of a high frequency Rsa I polymorphism in the human proα2 (I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBO J 4:1745–1748

    Google Scholar 

  • Grunebaum L, Cazenave J-P, Camerino G, Kloepfer C, Mandel JL (1984) Carrier detection of haemophilia B by using a restriction site polymorphism associated with the coagulation factor. J Clin Invest 73:1491–1495

    Google Scholar 

  • Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, Young AB, Shoulson I, Bonnilla E, Martin JB (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306:234–238

    Google Scholar 

  • Gusella JF, Tanzi RE, Anderson MA, Dhobbs W, Gibbons K, Raschtchian R, Gillian TC, Wallace MR, Wexter NS, Conneally PM (1984) DNA markers for nervous system diseases. Science 225:1320–1326

    Google Scholar 

  • Gusella JF, Tanzi RE, Bader PI, Phelan MC, Stevenson R, Hayden MR, Hofman KJ, Farynairz AG, Gibbons K (1985) Deletion of Huntington's disease-linked G8 (D4210) locus in Wolf-Hirschhorn syndrome. Nature 318:75–78

    Google Scholar 

  • Haneda M, Chan SJ, Kwok SCM, Rubenstein AH, Steiner DF (1983) Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24] insulin. Proc Natl Acad Sci USA 80:6366–6370

    Google Scholar 

  • Harper K, Pembrey ME, Davies KE, Winter RM, Hartley D, Tuddenham EGD (1984) A clinically useful DNA probe closely linked to haemophilia A. Lancet II:6–8

    Google Scholar 

  • Harper PS, Youngman S, Anderson MA, Sarfarazi M, Quarell O, Tanzi R, Shaw D, Wallace P, Conneally PM, Gusella JF (1985) Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales. J Med Genet 22:447–450

    Google Scholar 

  • Henke E, Leader WM, Pinnell S, Kaufman RE (1984) A 38 bp insertion in the pro α 2(I) collagen gene in the Marfan syndrome. J Cell Biochem Suppl 8B:284

    Google Scholar 

  • Hofker MH, Wapenaar MC, Goor N, Bakker E, Van Ommen GJB, Pearson PL (1985) Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet 70:148–156

    Google Scholar 

  • Horiuchi Y, Honjo T, Ono M (1985) IgE heavy chain constant region genes in atopic dermatitis and senile erythroderma patients. Immunogenetics 22:241–246

    Google Scholar 

  • Horstemke B, Kessling AM, Seed M, Wyun V, Williamson R, Humphries SE (1985) Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia. Hum Genet 71:75–78

    Google Scholar 

  • Huebner K, Isobe M, Croce CM, Golde DW, Kaufman SE, Gasson JC (1985) The human gene encoding GM-CSF is at 5q21-q32, the chromosome region deleted in the 5q- anomaly. Science 230: 1282–1285

    Google Scholar 

  • Huerre C, Despoisse S, Gilgenkrantz S, Lenoir GM, Junien C (1983) c-Ha-ras 1 is not deleted in aniridia-Wilms' tumour association. Nature 305:638–641

    Google Scholar 

  • Human Gene Mapping 8 (1985) Cytogenet Cell Genet 40:Nos 1–4

    Google Scholar 

  • Humphries SE, Williams L, Myklebost D, Stalenhoef AFH, Demacker PNM, Baggio G, Crepaldi G, Galton DJ, Williamson R (1984) Familial apolipoprotein CII deficiency: a preliminary analysis of the gene defect in two independent families. Hum Genet 67:151–155

    Google Scholar 

  • Humphries SE, Kessling AM, Horsthemke B, Donald JA, Seed M, Jowett N, Holm M, Galton DJ, Wynn V, Williamson R (1985) A common DNA polymorphism of the low-density lipoprotein (LDC) receptor gene and its use in diagnosis. Lancet I:1003

    Google Scholar 

  • Jones FS, Grinberg JI, Fischer SG, Ford JP (1985) Detection of sickle-cell mutation by electrophoresis of partial RNA: DNA hybrids following solution hybridization. Gene 39:77–83

    Google Scholar 

  • Kan YW, Dozy AM (1978a) Polymorphism of DNA sequence adjacent to human β-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci USA 75:5631–5635

    Google Scholar 

  • Kan YW, Dozy AM (1978b) Antenatal diagnosis of sickle-cell anaemia by DNA analysis of amniotic-fluid cells. Lancet II:910–912

    Google Scholar 

  • Karathanasis SK, Norum RA, Zannis VI, Breslow JL (1983a) An inherited polymorphism in the human apolipoprotein A-1 gene locus related to the development of atherosclerosis. Nature 301:718–720

    Google Scholar 

  • Karathanasis SK, Zannis VI, Breslow JL (1983b) A DNA insertion in the apolipoprotein A-I gene of patients with premature atherosclerosis. Nature 305:823–825

    Google Scholar 

  • Kidd VJ, Wallace RB, Itakura K, Woo SLC (1983) 9-1 deficiency detection by direct analysis of the mutation in the gene. Nature 304:230–234

    Google Scholar 

  • Kidd VJ, Golbus MS, Wallace RB, Hakura K, Woo SCL (1984) Prenatal diagnosis of α1-antitrypsin deficiency by direct analysis of the mutation site in the gene. N Engl J Med 310:639–641

    Google Scholar 

  • Kingston HM, Thomas NST, Pearson PL, Sarfarazi M, Harper PS (1983) Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. J Med Genet 20:255–258

    Google Scholar 

  • Kingston HM, Sarfarazi M, Newcombe RG, Willis N, Harper PS (1985) Carrier detection in Becker muscular dystrophy using creatine kinase estimation and DNA analysis. Clin Genet 27:383–391

    Google Scholar 

  • Knowlton RG, Cohen-Haguenauer O, van Cong N, Frézal J, Brown VA, Barker D, Braman JC, Schumm JW, Tsui LC, Buchwald M, Donis-Keller H (1985) A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature 318:380–382

    Google Scholar 

  • Koufos A, Hansen MF, Lampkin BC, Workman ML, Copeland NG, Jenkins NA, Cavennee WK (1984) Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour. Nature 309:170–172

    Google Scholar 

  • Koufos A, Hansen MF, Copeland NG, Jenkins NA, Lampkin BC, Cavenee WK (1985) Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism. Nature 316:330–334

    Google Scholar 

  • Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA (1985) Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci USA 82:4778–4782

    Google Scholar 

  • LeBeau MM, Westbrook CA, Diaz MO, Rowley JD, Oren M (1985) Translocation of the p53 gene in t(15;17) acute promyelocytic leukemia. Nature 316:826–828

    Google Scholar 

  • Lehrman MA, Schmeider WJ, Sudhof TC, Brown MS, Goldstein JL, Russell DW (1985) Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science 227:140–146

    Google Scholar 

  • Lidsky AS, Guttler F, Woo SCL (1985a) Prenatal diagnosis of classic phenylketonuria by DNA analysis. Lancet I:549–551

    Google Scholar 

  • Lidsky AS, Ledley FD, Dilella AG, Kwok SCM, Daiger SP, Robson KJH, Woo SCL (1985b) Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria. Am J Hum Genet 37:619–634

    Google Scholar 

  • Little PFR, Annison G, Darling S, Williamson R, Camba L, Modell B (1980) Model for antenatal diagnosis of β-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms. Nature 285:144–147

    Google Scholar 

  • McKusick VA (1983) Mendelian inheritance in man. 6th edn. Johns Hopkins University Press, Baltimore

    Google Scholar 

  • Michalopoulos EE, Bevilacqua PJ, Stokoe N, Powers VE, Willard HF, Lewis WH (1985) Molecular analysis of gene deletion in aniridia-Wilms tumor association. Hum Genet 70:157–162

    Google Scholar 

  • Minden MD, Toyonaga B, Ha K, Yanagi Y, Chin B, Gelfand E, Mak T (1985) Somatic rearrangement of T-cell antigen receptor gene in human T-cell malignancies. Proc Natl Acad Sci USA 82:1224–1227

    Google Scholar 

  • Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM (1985) Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316:842–845

    Google Scholar 

  • Mulligan LM, Phillips MA, Foster-Gibson CJ, Beckett J, Partington MW, Simpson NE, Holden JJA, White BN (1985) Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq 27.3. Am J Hum Genet 37:463–472

    Google Scholar 

  • Murray JC, Demopulos CM, Lawn RM, Motulsky AG (1983) Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. Proc Natl Acad Sci USA 80:5951–5955

    Google Scholar 

  • Myers RM, Lumelsky N, Lerman LS, Mariatis T (1985a) Detection of single base substitutions in total genomic DNA. Nature 313:495–498

    Google Scholar 

  • Myers RM, Fischer SG, Lerman LS, Maniatis T (1985b) Nearly all single base substitutions in DNA fragments joined to a GC clamp can be detected by denaturing gradient gel electrophoresis. Nucleic Acids Res 13:3131–3145

    Google Scholar 

  • Myers RM, Larin Z, Maniatis T (1985c) Detection of single base substitutions by ribonuelcase cleavage at mismatches in RNA:DNA duplexes. Science 230:1242–1246

    Google Scholar 

  • Nienhuis AW, Bunn HE, Turner PH, Gopal TV, Nash WG, O'Brien SJ, Sherr CJ (1985) Expression of the hum c-fms proto-oncogene in hematopoietic cells and its deletion in the 5q-syndrome. Cell 42:421–428

    Google Scholar 

  • Nussbaum RL, Crowder WE, Nyhan WL, Caskey CT (1983) A three allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci USA 80:4035–4039

    Google Scholar 

  • Nussbaum RL, Lewis RA, Lesko JG, Ferrell R (1985a) Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers. Hum Genet 70:45–50

    Google Scholar 

  • Nussbaum RL, Lewis RA, Lesko JG, Ferrell R (1985b) Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at Xq13-21. Am J Hum Genet 37:473–481

    Google Scholar 

  • Oberlé I, Camerino G, Heilig H, Grunebaum L, Cazenave JP, Crapanzano C, Mannucci PM, Mandel JL (1985) Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe. N Engl Med 312:682–686

    Google Scholar 

  • O'Connor NTJ, Weatherall DJ, Feller AC, Jones D, Pallesen G, Stein H, Wainscot JS, Gatter KC, Isaacson P, Lennert K, Ramsey A, Wright DH, Mason DY (1985) Rearrangement of the T-cell-receptor β-chain gene in the diagnosis of lymphoproliferative disorders. Lancet I:1295–1297

    Google Scholar 

  • Old JM, Ward RHT, Petrou M, Karagözlu F, Modell B, Weatherall DJ (1982) First trimester fetal diagnosis of haemoglobinopathies: three cases Lancet II:1413–1416

    Google Scholar 

  • Old JM, Purvis-Smith S, Wilcken B, Pearson P, Williamson R, Briand PL, Howard NJ, Hammond J, Cathelineau L, Davies KE (1985) Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis. Lancet I:73–75

    Google Scholar 

  • Orkin SH, Alter BP, Altay C, Mahoney MJ, Lazarus H, Hobbins JC, Nathan DG (1978) Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globingene deletion. N Engl J Med 299:166–172

    Google Scholar 

  • Orkin SH, Markham AF, Kazazian HH (1983) Direct detection of the common Mediterrancan β-thalassemia gene with synthetic DNA probes: an alternative approach for prenatal diagnosis. J Clin Invest 71:775–779

    Google Scholar 

  • Orkin SH, Goldman DS, Sallan SE (1984) Development of homozygosity for chromosome 11p markers in Wilms' tumour. Nature 309:172–174

    Google Scholar 

  • Peake IR, Furlong BL, Bloom AL (1984) Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency). Lancet I:242–243

    Google Scholar 

  • Phillips JA, Panny SR, Kazazian HH, Boehm CD, Scott AF, Smith KD (1980) Prenatal diagnosis of sickle cell anemia by restriction endonuclease analysis: Hind III polymorphisms in α-globin genes extend test applicability. Proc Natl Acad Sci USA 77:2853–2856

    Google Scholar 

  • Phillips JA, Hjelle BL, Seeburg PH, Zachmann M (1981) Molecular basis for familial isolated growth hormone deficiency. Proc Natl Acad Sci USA 78:6372–6375

    Google Scholar 

  • Phillips JA, Parks JS, Hjelle BL, Seeburg PH, Zachmann M (1982) Genetic analysis of familial isolated growth hormone deficiency type 1. J Clin Invest 70:489–495

    Google Scholar 

  • Piratsu M, Kan YW, Galanello R, Cao A (1984) Multiple mutations produce thalassaemia in Sardinia. Science 223:929–930

    Google Scholar 

  • Pope FM, Nicholls AC, Grosveld FG (1983) Similar αI(1)-like gene deletions cause some types of Ehlers Danlos syndrome type II and lethal osteogenesis imperfecta. Clin Gener 24:303

    Google Scholar 

  • Pope FM, Cheah KSE, Nicholls AC, Price AB, Grosveld FG (1984) Lethal osteogenesis imperfecta congenita and a 300 b.p. gene deletion for an α1-(1) collagen. Br Med J 288:431–434

    Google Scholar 

  • Prochownik EV, Antonarakis S, Bauer KA, Rosenberg RD, Fearon ER, Orkin SH (1983) Molecular heterogeneity of inherited antithrombin III deficiency. N Engl J Med 308:1549–1552

    Google Scholar 

  • Rabbitts TH, Stinson A, Forster A, Foroni L, Luzzatto L, Catovsky D, Hammarström L, Smith CIE, Jones D, Karpas A, Minowada J, Taylor AMR (1985) Heterogeneity of T-cell β-chain gene rearrangements in human leukaemias and lymphomas. EMBO J 4: 2217–2224

    Google Scholar 

  • Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearson PL, Weatherall DJ (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542–544

    Google Scholar 

  • Rees A, Shoulders CC, Stocks J, Galton DJ, Baralle FE (1983) DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridemia. Lancet I:444

    Google Scholar 

  • Rees DJG, Rizza CR, Brownlee GG (1985a) Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene. Nature 316:643–645

    Google Scholar 

  • Rees A, Stocks J, Sharpe CR, Vella MA, Shoulders CC, Katz J, Jowett NI, Baralle FE, Galton DJ (1985b) Deoxyribonucleic acid polymorphism in the apolipoprotein A-I-C III gene cluster: association with hypertriglyceridemia. J Clin Invest 76:1090–1095

    Google Scholar 

  • Reeve AE, Housiaux PJ, Gardner RJM, Chewings WE, Grindley RM, Millow LJ (1984) Loss of a Harvey ras allele in sporadic Wilms' tomour. Nature 309:174–176

    Google Scholar 

  • Roncuzzi L, Fadda S, Mochi M, Prosperi L, Sangiorgi S, Santamaria R, Sbarra D, Besana D, Morandi L, Rocci M, Romeo G (1985) Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids. Am J Hum Genet 37:407–417

    Google Scholar 

  • Rosatelli C, Tuveri T, Falchi AM, Scales MT, Di Tucci A, Monni G, Cao A (1985) Prenatal diagnosis of beta-thalassaemia with the synthetic oligomer technique. Lancet I:241–243

    Google Scholar 

  • Rotwein P, Chyn R, Chirgwin J, Cordell B, Goodman HM, Permutt MA (1981) Polymorphism in the 5′flanking region of the human insulin gene and its possible relation to type 2 diabetes. Science 213:1117–1120

    Google Scholar 

  • Rotwein PS, Chirgwin J, Province M, Knowler WC, Pekitt DJ, Cordell B, Goodman HM, Pettitt MA (1983) Polymorphism in the 5′ flanking region of the human insulin gene: a genetic marker for non-insulin-dependent diabetes. N Engl J Med 308:65–71

    Google Scholar 

  • Rozen R, Fox J, Fenton WA, Horwich AL, Rosenberg LE (1985) Gene deletion and restriction fragment length polymorphisms at the human ornithine carbamylase locus. Nature 313:815–817

    Google Scholar 

  • Sasaki H, Sakaki Y, Takagi Y, Sahashi K, Takahashi A, Isobe T, Shinoda T, Matsuo H, Goto I, Kuroiwa T (1985) Presynaptomatic diagnosis of heterozygosity for familial amyloidotic polyneuropathy by recombinant DNA techniques. Lancet I:100

    Google Scholar 

  • Scambler PJ, Williamson R (1985) The structural gene for human coagulation factor X is located on chromosome 13 q34. Cytogenet Cell Genet 39:231–233

    Google Scholar 

  • Scambler PJ, Farrall M, Stanier P, Bell G, Ramirez R, Wainwright BJ, Bell J, Lench NJ, Kruyer H, Williamson R (1985) Linkage of Col 1A2 collagen gene to cystic fibrosis, and its clinical implications. Lancet II:1241–1242

    Google Scholar 

  • Schmidtke J, Cooper DN (1983) A list of cloned human DNA sequences. Hum Genet 65:19–26

    Google Scholar 

  • Schmidtke J, Cooper DN (1984) A list of cloned human DNA sequences-supplement. Hum Genet 67:111–114

    Google Scholar 

  • Schmidtke J, Kruse K, Pape B, Sippel WG (1986) Exclusion of close linkage between the parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism. J Med Genet (in press)

  • Shaw DJ, Meredith AL, Sarfarazi M, Huson SM, Brook JD, Myklebost O, Harper PS (1985) The apolipoprotein CII gene: subchromosomal localization and linkage to the myotonic dystrophy locus. Hum Genet 70:271–273

    Google Scholar 

  • Smith E, Hammarström L (1985) Detection of α1 and α2 genes in individuals with undetectable immunoglobulin A. Scand J Immunol 22:452

    Google Scholar 

  • Stambrook PJ, Dush MK, Trill JJ, Tischfield JA (1984) Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants. Somatic Cell Mol Genet 10:359–367

    Google Scholar 

  • Stavnezer-Nordgren J, Kekish O, Zegers BJM (1985) Molecular defects in a human immunglobulin K chain deficiency. Science 230:458–461

    Google Scholar 

  • Strom CM (1984) Achondroplasia due to DNA insertion into the type II collagen gene. Pediatr Res 18:226A

    Google Scholar 

  • Su T-S, Bock H-GO, Beaudet AL, O'Brien WE (1982) Molecular analysis of argininosuccinate deficiency in human fibroblasts. J Clin Invest 70:1334–1335

    Google Scholar 

  • Sullivan KE, Stobo JD, Peterlin BM (1985) Molecular analysis of the bare lymphocyte syndrome. J Clin Invest 76:75–79

    Google Scholar 

  • Sykes BC, Ogilvie DJ, Wordsworth BP (1985a) Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation. Hum Genet 70:35–37

    Google Scholar 

  • Sykes B, Smith R, Vipond S, Paterson C, Cheah K, Solomon E (1985b) Exclusion of the α1(II) cartilage collagen gene as the mutant locus in type 1A osteogenesis imperfecta. J Med Genet 22: 187–191

    Google Scholar 

  • Tawa A, Hozumi N, Minden M, Mak TW, Gelfand EW (1985) Rearrangement of the T-cell receptor β-chain in non-T-cell, non-B-cell acute lymphoblastic leukemia of chidhood. N Engl J Med 313: 1033–1037

    Google Scholar 

  • Thein SL, Wainscoat JS, Old JM, Sampietro M, Fiorelli G, Wallace RB, Weatherall DJ (1985) Feasibility of prenatal diagnosis of β-thalassaemia with synthetic DNA probes in two Mediterranean populations. Lancet II:345–347

    Google Scholar 

  • Tønnesen T, Søndergaard F, Mikkelsen M, Davies DE, Old J, Winter RM, Hauge M (1984) X-chromosome-specific probe DX13 for carrier detection and first trimester prenatal diagnosis in haemophilia A. Lancet II:1269–1270

    Google Scholar 

  • Tsipouras P, Børresen A-L, Dickson LA, Berg K, Prockop DJ, Ramirez F (1984) Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta. Am J Hum Genet 36:1172–1179

    Google Scholar 

  • Tsui LC, Buchwald M, Barker D, Braman JC, Knowlton R, Schumm JW, Eiberg H, Mohr J, Kennedy D, Plavsic N, Zsiga M, Markiewicz D, Akots G, Brown V, Helms C, Gravius T, Parker C, Rediker K, Donis-Keller H (1985) Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 230:1054–1057

    Google Scholar 

  • Uzan G, Courtois G, Besmond C, Frain M, Sala-Trepat J, Kahn A, Marguerie G (1984) Analysis of fibrinogen genes in patients with congenital afibrinogenemia. Biochem Biophys Res Commun 120: 376–383

    Google Scholar 

  • Valerio D, Duyvestyn MGC, van Ormondt H, Meera Khan P, van der Eb AJ (1984) Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein. Nucleic Acids Res 12: 1015–1024

    Google Scholar 

  • Van Heyningen V, Boyd PA, Seawright A, Fletcher JM, Fantes JA, Buckton KE, Spowart G, Porteous DJ, Hill RE, Newton MS, Hastie ND (1985) Molecular analysis of chromosome 11 deletions in aniridia-Wilms' tumour syndrome. Proc Natl Acad Sci USA 82:8592–8596

    Google Scholar 

  • Vella M, Kessling A, Jowett N, Rees A, Stocks J, Wallis S, Galton D (1985) DNA polymorphisms flanking the apo A-1 and insulin genes and type II hyperlipidaemia. Hum Genet 69:275–276

    Google Scholar 

  • Wainwright BJ, Scambler PJ, Schmidtke J, Watson EA, Law HY, Farrall M, Cooke HJ, Eiberg H, Williamson R (1985) Localization of cystic fibrosis locus to human chromosome 7 cen-q22. Nature 318:384–385

    Google Scholar 

  • Wallace MR, Dwulet FE, Conneally PM, Benson MD (1985) Identification of a new variant prealbumin in hereditary amyloidosis and detection of gene carriers by RFLP. Am J Hum Genet 37:A20

    Google Scholar 

  • Wang HS, Greenberg CR, Hayden M (1985) Subregional assignment of a DNA marker (G8) linked to Huntington disease by in situ hybridization. Am J Hum Genet 37:A121

    Google Scholar 

  • Warren ST, Glover TW, Davidson RL, Jagadeeswaran P (1985) Linkage and recombination between fragile X-linked mental retardation and the factor IX gene. Hum Genet 69:44–46

    Google Scholar 

  • Weiss LM, Hu E, Wood GS, Moulds C, Cleary ML, Warnke R, Sklar J (1985) Clonal rearrangements of T-cell receptor genes in mycosis fungoides and dermatopathic lymphadenopathy. N Engl J Med 313:539–544

    Google Scholar 

  • White PC, New MI, Dupont B (1984) HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci USA 81:7505–7509

    Google Scholar 

  • White PC, Grossberger D, Onufer BJ, Chaplin DD, New MI, Dupont B, Strominger JL (1985) Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc Natl Acad Sci USA 82:1089–1093

    Google Scholar 

  • White R, Leppert M, Bishop DT, Barker D, Berkowitz J, Brown C, Callahan P, Holm T, Jerominski L (1985a) Construction of linkage maps with DNA markers for human chromosomes. Nature 313:101–105

    Google Scholar 

  • White R, Woodword S, Leppert M, O'Connell P, Hoff M, Herbst J, Lalouel JM, Dean M, Vande Woude G (1985b) A closely linked genetic marker for cystic fibrosis. Nature 318:382–384

    Google Scholar 

  • Whitehead AS, Skinner M, Bruns GAP, Costello W, Edge MD, Cohen AS, Sipe JD (1984) Cloning of human prealbumin complementary DNA. Mol Biol Med 2:411–423

    Google Scholar 

  • Wieacker P, Davies KE, Mevorah B, Ropers HH (1983a) Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome. Hum Genet 63:113–116

    Google Scholar 

  • Wieacker P, Horn N, Pearson P, Wienker TF, McKay E, Ropers HH (1983b) Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism. Hum Genet 64:139–142

    Google Scholar 

  • Wieacker P, Wienker TF, Dallapiccola B, Bender K, Davies KE, Ropers HH (1983c) Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. Hum Genet 64:143–145

    Google Scholar 

  • Wilcox DE, Affara NY, Yates JRW, Ferguson-Smith MA, Pearson PL (1985) Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy. Hum Genet 70:365–375

    Google Scholar 

  • Wilson JM, Young AB, Kelley WN (1983a) Hypoxanthine-guanine phosphorybosyl-transferase deficiency: the molecular basis of the clinical syndromes. N Engl J Med 309:900–910

    Google Scholar 

  • Wilson JM, Frossard P, Nussbaum R, Caskey CT, Kelly WN (1983b) Human hypoxanthine guanine phosphoribosyltransferase: detection of a mutant allele by restriction endonuclease analysis. J Clin Invest 72:767–772

    Google Scholar 

  • Winship PR, Anson DS, Rizza CR, Brownlee GG (1984) Carrier detection in haemophilia B using two further intragenic RFLPs. Nucleic Acids Res 12:8861–8872

    Google Scholar 

  • Woo SCL, Lidsky AS, Guttler F, Chandrda T, Robson KJH (1983) Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature 306:151–155

    Google Scholar 

  • Wurzel JM, Parks JS, Herd JE, Nielsen PV (1982) A gene deletion is responsible for absence of human chorionic somatomammotropin. DNA 1:251–257

    Google Scholar 

  • Yang TP, Patel PI, Brennand J, Chinault AC, Caskey CT (1983) Molecular analysis of the human HPRT locus. Abstracts 34th Annual Meeting, American Society of Human Genetics, 185A

  • Yang TP, Patel PI, Chinault AC, Stout JT, Jackson LG, Hildebrand BM, Caskey CT (1984) Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature 310:412–414

    Google Scholar 

  • Yokoyama S (1983) Polymorphism in the 5′-flanking region of the human insulin gene and the incidence of diabetes. Am J Hum Genet 35:193–200

    Google Scholar 

  • Yokoyama S (1985) DNA polymorphism and the susceptibility to diabetes. Am J Med Genet 21:649–654

    Google Scholar 

  • Zoll B, Arnemann J, Cooper DN, Krawczak M, Pescia G, Wahli W, Schmidtke J (1985) Evidence against close linkage of Martin-Bell syndrome and factor IX. Hum Genet 71:122–126

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neurochemistry, Institute of Neurology, University of London, Queen Square, WC1N 3BG, London, UK

    D. N. Cooper

  2. Institut für Humangenetik der Universität, Gosslerstrasse 12d, D-3400, Göttingen, Federal Republic of Germany

    J. Schmidtke

Authors
  1. D. N. Cooper
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J. Schmidtke
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Cooper, D.N., Schmidtke, J. Diagnosis of genetic disease using recombinant DNA. Hum Genet 73, 1–11 (1986). https://doi.org/10.1007/BF00292654

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00292654

Keywords

Search

Navigation