DNA polymorphism and the study of disease associations
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Summary
Recombinant DNA approaches to disease analysis may be as applicable to studies of disease association as they are to the analysis and diagnosis of single-gene defects. Population and/or family association analyses, using restriction fragment length polymorphisms around candidate genes as markers, have been employed to study conditions such as atherosclerosis and disease with an HLA-association. Progress made to date in disease-association studies using recombinant DNA methodology is reviewed, the rationale behind such studies is examined and associated problems and pitfalls discussed.
Keywords
Atherosclerosis Internal Medicine Candidate Gene Metabolic Disease Fragment Length
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References
- Aburatani H, Murase T, Takaku F, Itoh H, Matsumoto A, Itakura H (1987) Apolipoprotein B-gene polymorphism and myocardial infarction. N Engl J Med 317:52Google Scholar
- Anderson RA, Benda TJ, Wallace RB, Eliason SL, Lee J, Burns TL (1986) Prevalence and associations of apolipoprotein A1-linked DNA polymorphisms: results from a population study. Genet Epidemiol 3:385–397Google Scholar
- Andreas-Zietz A, Keller E, Scholz S, Albert ED, Roth B, Nevsimalova S, Sonka K, Docekal P, Ivaskova E, Schulz H, Geisler P (1986) DR2-negative narcolepsy. Lancet II:684–685Google Scholar
- Antonarakis SE, Kazazian HH, Orkin SH (1985a) DNA polymorphism and molecular pathology of the human globin gene clusters. Hum Genet 69:1–14Google Scholar
- Antonarakis SE, Kittur SM, Metaxotou C, Watkins PC, Patel AS (1985b) Analysis of DNA haplotypes suggest a genetic predisposition to trisomy 21 associated with DNA sequences on chromosome 21. Proc Natl Acad Sci USA 82:3360–3364Google Scholar
- Arnheim N, Strange C, Erlich H (1985) Use of pooled DNA samples to detect linkage disequilibrium of polymorphic restriction fragments and human disease: studies of the HLA class II loci. Proc Natl Acad Sci USA 82:6970–6974Google Scholar
- Auffray JL, Strominger JL (1986) Molecular genetics of the human major histocompatibility complex. Adv Hum Genet 15:197–247Google Scholar
- Awata T, Shibasaki Y, Hirai H, Okabe T, Kanazawa T, Takaku F (1985) Restriction fragment length polymorphism of the insulin gene region in Japanese diabetic and non-diabetic subjects. Diabetologia 28:911–913Google Scholar
- Ball M, Mann JI (1986) Apoproteins: predictors of coronary heart disease? Br Med J 293:769–770Google Scholar
- Barker D, Schaefer M, White R (1984) Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36:131–138Google Scholar
- Bell GI, Horita J, Karam J (1984) A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes. Diabetes 33:176–183Google Scholar
- Bell GI, Karam JH, Raffel LJ, Hitman GA, Yen PH, Galton DJ, Bottazzo GF, Rotter JI, Thomson G (1985) Recessive inheritance for the insulin-linked IDDM predisposing gene. Am J Hum Genet 37:A188Google Scholar
- Bell J, Rassenti L, Smoot S, Smith K, Newby C, Hohlfeld R, Toyka K, McDevitt H, Steinman L (1986) HLA-DQ beta-chain polymorphism linked to myasthenia gravis. Lancet I:1058–1060Google Scholar
- Bodmer WF (1980) The HLA system and disease. J R Coll Physicians Lond 14:43–50Google Scholar
- Bodmer WF (1984) DNA polymorphisms and genetic markers in population and family studies of genetic predisposition. (Banbury report, vol 16) Cold Spring Harbor Laboratory, Cold Spring Harbor, NYGoogle Scholar
- Boehme J, Carlsson B, Wallin J, Moller E, Persson B, Petersen PA, Rask L (1986) Only one DQ-β restriction fragment pattern of each DR specificity is associated with insulin-dependent diabetes. J Immunol 137:941–947Google Scholar
- Breslow JL (1984) Molecular genetics of lipoprotein disorders. Circulation 69:1190–1194Google Scholar
- Breslow JL (1985) Human apolipoprotein molecular biology and genetic variation. Annu Rev Biochem 54:699–727Google Scholar
- Buraczynska M, Hanzlik J, Grzywa M (1985) Apolipoprotein A1 gene polymorphisms and susceptibility to non-insulin dependent diabetes mellitus. Am J Hum Genet 37:1129–1137Google Scholar
- Buraczynska M, Hanzlik J, Grzywa M (1986) Apo A-1 related DNA polymorphism in humans with coronary heart disease. Hum Genet 74:165–167Google Scholar
- Chakravarti A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH (1984) Non-uniform recombination within the human beta-globin gene cluster. Am J Hum Genet 36:1239–1258Google Scholar
- Chakravarti A, Elbein SC, Permutt MA (1986) Evidence for increased recombination near the human insulin gene: implication for disease association studies. Proc Natl Acad Sci USA 83:1045–1049Google Scholar
- Christy M, Mandrup-Poulsen T, Nerup J (1984) Genetic markers in insulin-dependent (type 1) diabetes mellitus. Ann Clin Res 16: 53–63Google Scholar
- Cohen D, Cohen O, Marcadet A, Massart C, Lathrop M, Deschamps I, Hors J, Schuller E, Dausset J (1984) Class II HLA-DC beta-chain DNA restriction fragments differentiate among HLA-DR2 individuals in insulin-dependent diabetes und multiple sclerosis. Proc Natl Acad Sci USA 81:1774–1778Google Scholar
- Cohen N, Brautbar C Font M-P, Dausset J, Cohen D (1986) HLA-DR2-associated Dw subtypes correlate with RFLP clusters: most DR2 IDDM patients belong to one of these clusters. Immunogenetics 23:84–89Google Scholar
- Cohen-Haguenauer O, Robbins E, Massart C, Busson M, Deschamps I, Hors J, Lalouel J-M, Dausset J, Cohen D (1985) A systematic study of HLA class II-beta DNA restriction fragments in insulin-dependent diabetes mellitus. Proc Natl Acad Sci USA 82:3335–3339Google Scholar
- Colb M, Yang-Feng T, Francke U, Mermer B, Parkinson DR, Krontiris TG (1986) A variable tandem repeat locus mapped to chromosome band 10q26 is amplified and rearranged in leukocyte DNAs of two cancer patients. Nucleic Acids Res 14:7929–7937Google Scholar
- Conte WJ, Rotter JI (1984) The use of association data to identify family members at high risk for marker-linked diseases. Am J Hum Genet 36:152–166Google Scholar
- Cooper DN (1983) Eukaryotic DNA methylation. Hum Genet 64: 315–333Google Scholar
- Cooper DN, Barfoot M (1987) Can you buy insurance for your genes? New Sci 115: (no 1569) 51Google Scholar
- Cooper DN, Schmidtke J (1984) DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet 66:1–16Google Scholar
- Cooper DN, Schmidtke J (1986) Diagnosis of genetic disease using recombinant DNA. Hum Genet 73:1–11Google Scholar
- Cooper DN, Schmidtke J (1987) Diagnosis of genetic disease using recombinant DNA. Supplement. Hum Genet 77:66–75Google Scholar
- Cooper DN, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78:151–155Google 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 69:201–205Google Scholar
- Dalgleish R, Williams G, Hawkins JR (1986) Length polymorphism in the pro-alpha 2(I) collagen gene: an alternative explanation in a case of Marfan syndrome. Hum Genet 73:91–92Google Scholar
- Davies KE, Mattei MG, Mattei JF, Veenema H, McGlade S, Harper K, Tømmerup N, Nielsen KB, Mikkelsen M, Beighton P, Drayna D, White R, Pembrey ME (1985a) Linkage studies of X-linked mental retardation: high frequency of recombination of the human X chromosome. Hum Genet 70:249–255Google Scholar
- Davies KE, Speer A, Herrmann F, Spiegler AWJ, McGlade S, Hofker MH, Brianet P, Hanke R, Schwartz M, Steinbicker V, Szibor R, Korner H, Sommes D, Pearson PL, Coutelle C (1985b) Human X chromosome markers and Duchenne muscular dystrophy. Nucleic Acids Res 13:3419–3426Google Scholar
- Davignon J, Sing CF, Lussier-Cacan S, Nestruck AC, Bouthillier D (1986) Importance of apolipoprotein E polymorphism in determining plasma lipid levels and atherosclerosis. In: Fidge NH, Nestel PJ (eds) Atherosclerosis VII. Elsevier, Amsterdam New York, pp 171–175Google Scholar
- Dawkins RL, Christiansen FT, Kay PH, Garlepp M, McCluskey J, Hollingsworth PN, Zilko PJ (1983) Disease associations with complotypes, supratypes and haplotypes. Immunol Rev 70:5–22Google Scholar
- Deeb S, Failor A, Brown BG, Brunzell JD, Albers JJ, Motulsky AG (1986) Molecular genetics of apolipoproteins and coronary heart disease. Cold Spring Harbor Symp Quant Biol 51:403–409Google Scholar
- Drayna DT, McLean JW, Wion KL, Trent JM, Drabkin HA, Lawn RM (1987) Human apolipoprotein D gene: gene sequence, chromosome localization and homology to the alpha-2 micro-globulin super family. DNA 6:199–204Google Scholar
- Due C, Simonsen M, Olsson L (1986) The major histocompatibility complex class I heavy chain as a structural subunit of the human cell membrane insulin receptor: implications for the range of biological functions of histocompatibility antigens. Proc Natl Acad Sci USA 83:6007–6011Google Scholar
- Duesberg PH (1985) Activated proto-onc genes: sufficient or necessary for cancer? Science 228:669–677Google Scholar
- Dunckley H, Gatenby PA, Serjeantson SW (1986) DNA typing of HLA-DR antigens in systemic lupus erythematosus. Immunogenetics 24:158–162Google Scholar
- Elbein S, Rotwein P, Permutt MA, Bell GI, Sanz N, Karam JH (1985) Lack of association of the polymorphic locus in the 5′-flanking region of the human insulin gene and diabetes in American Blacks. Diabetes 34:433–439Google Scholar
- Eng CEL, Pauli RM, Strom CM (1985) Non-random association of a type II procollagen genotype with achondroplasia. Proc Natl Acad Sci USA 82:5465–5469Google Scholar
- Eng CEL, Pauli RM, Strom CM (1986) Retraction. Proc Natl Acad Sci USA 83:5354Google Scholar
- Erlich HA, Stetler D (1984) Polymorphic restriction endonuclease sites linked to the HLA-DR alpha chain gene: localization and use as genetic markers in controls and insulin dependent diabetes mellitus-populations. Diabetes 32:37AGoogle Scholar
- Erlich HA, Sheldon EL, Horn G (1987) HLA typing using DNA probes. Biotechnology 4:975–981Google Scholar
- Ferns GAA, Galton DJ (1986a) Haplotypes of the human apoprotein AI-CIII-AIV gene cluster in coronary atherosclerosis. Hum Genet 73:245–249Google Scholar
- Ferns GAA, Galton DJ (1986b) Frequency of XbaI polymorphism in myocardial infarct survivors. Lancet II:572Google Scholar
- Ferns GAA, Ritchie C, Stocks J, Galton DJ (1985) Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction. Lancet II:300–303Google Scholar
- Ferns GAA, Stocks J, Galton DJ (1986) C-III DNA restriction fragment length polymorphism and myocardial infarction. Lancet I:94Google Scholar
- Festenstein H, Awad J, Hitman GA, Cutbush S, Groves AV, Cassell P, Ollier W, Sachs JA (1986) New HLA DNA polymorphisms associated with autoimmune diseases. Nature 322:64–67Google Scholar
- Fletcher JC, Berg K, Tranoy KE (1985) Ethical aspects of medical genetics. A proposal for guidelines in genetic counselling, prenatal diagnosis and screening. Clin Genet 27:199–205Google Scholar
- Gaiser CN, Johnson MJ, Lange G de, Rassenti L, Cavalli-Sforza LL, Steinman L (1987) Susceptibility to multiple sclerosis associated with an immunoglobulin gamma 3 restriction fragment length polymorphism. J Clin Invest 79:309–313Google Scholar
- Gerhard DS, Dracopoli NC, Bale SJ, Houghton AN, Watkins P, Payne CE, Greene MH, Housman DE (1987) Evidence against Ha-ras-I involvement in sporadic and familial melanoma. Nature 325:73–75Google Scholar
- Golding GB (1984) The sampling distribution of linkage disequilibrium. Genetics 108:257–274Google Scholar
- Goldstein JL, Brown MS (1985) Familial hypercholesterolaemia. In: Stanbury JB, Wyngarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) Metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 672–712Google Scholar
- Haldane JBS (1955) The estimation of the significance of the logarithm of a ratio of frequency. Ann Hum Genet 20:309–311Google Scholar
- Haneda M, Kobayashi M, Maegawa H, Shigeta Y (1986) Low frequency of the large insertion in the human insulin gene in Japanese. Diabetes 35:115–118Google Scholar
- Hayden MR, Kirk H, Clark C, Frohlich J, Rabkins S, McLeod R, Hewitt J (1987) DNA polymorphisms in and around the apo-A1-CIII genes and genetic hyperlipidaemias. Am J Hum Genet 40:421–430Google Scholar
- Hegele RA, Huang L-S, Herbert PN, Blum CB, Buring JE, Hennekens CH, Breslow JL (1986) Apolipoprotein B-gene DNA polymorphisms associated with myocardial infarction. N Engl J Med 315: 1509–1515Google Scholar
- Henke E, Leader WM, Pinnell S, Kaufman RE (1984) A 38-bp insertion in the pro-alpha-2 (I) collagen gene in the Marfan syndrome. J Cell Biochem [Suppl] 8B:284Google Scholar
- Henson V, MacLaren NK, Wakeland EK (1985) Heterogeneity of DQ-DR linkage associations in DR3 and DR4 haplotypes. ICSU Short Rep 2:179–180Google Scholar
- Henson V, MacLaren N, Winter W, Riley W, Rotter J, Wakeland EK (1986) Molecular genetics of insulin-dependent diabetes mellitus. Mol Biol Med 3:129–136Google Scholar
- Henson V, MacLaren N, Riley W, Wakeland EK (1987) Polymorphisms of DQB genes in HLA-DR4 haplotypes from healthy and diabetic individuals. Immunogenetics 25:152–160Google Scholar
- Hill AVS, Wainscoat JS (1986) The evolution of the alpha- and betaglobin gene clusters in human populations. Hum Genet 74:16–23Google Scholar
- Hitman GH, Jowett NI, Williams LG, Humphries S, Winter RM, Galton DJ (1984) Polymorphism in the 5′-flanking region of the insulin gene and non-insulin dependent diabetes. Clin Sci 66:383–388Google Scholar
- Hitman GA, Tarn AC, Winter RM, Drummond V, Williams LG, Jowett NT, Bottazzo GF, Galton DH (1985) Type I (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11. Diabetologia 28:218–222Google Scholar
- Hitman GA, Sachs J, Cassell P, Awad J, Bottazzo GF, Tarn AC, Schwartz G, Monson JP, Festenstein H (1986) A DR3-related DX gene polymorphism strongly associates with insulin-dependent diabetes mellitus. Immunogenetics 23:47–51Google Scholar
- Hitman GA, Niven MJ, Festenstein H, Cassell PG, Awad J, Walker-Smith J, Leonard JN, Fry L, Ciclitira P, Kumar P, Sachs JA (1987) HLA class II alpha chain gene polymorphisms in patients with insulin-dependent diabetes mellitus, dermatitis herpetiformis and coeliac disease. J Clin Invest 79:609–615Google Scholar
- Holden C (1982) Looking at genes in the workplace. Science 217:336–337Google Scholar
- Holtzman NA (1985) Development of genetic tests by biotechnology companies. Am J Hum Genet 37:A59Google Scholar
- Hoover ML, Angelini G, Ball E, Stastny P, Marks J, Rosenstock J, Raskin P, Ferrara GB, Tosi R, Capra JD (1986) HLA-DQ and T-cell receptor genes in insulin-dependent diabetes mellitus. Cold Spring Harbor Symp Quant Biol 51:803–810Google Scholar
- Horsthemke B, Kessling AM, Seed M, Wynn 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 71:75–78Google Scholar
- Hoshina M, Boothby MR, Hussa RD, Pattillo RA, Camel HM, Boime I (1984) Segregation patterns of polymorphic restriction sites of the gene encoding the alpha subunit of human chorionic gonadotropin in trophoblastic disease. Proc Natl Acad Sci USA 81:2504–2507Google Scholar
- Howell MD, Austin RK, Kelleher D, Nepom GT, Kagnoff MF (1986) An HLA-D region restriction fragment length polymorphism associated with celiac disease. J Exp Med 164:333–338Google Scholar
- Hubbard AL, Clayton JF (1986) A study into a possible deviation from the Hardy-Weinburg equilibrium by the alleles of the hypervariable sequence in the region of the human insulin gene. Clin Genet 30:293–297Google Scholar
- Humphries SE (1986) The application of recombinant DNA technology to the analysis and diagnosis of hyperlipidaemia. In: Fidge NH, Nestel PJ (eds) Atherosclerosis VII. Elsevier, Amsterdam New York, pp 143–147Google Scholar
- Humphries SE, Cook M, Dubowitz M, Stirling Y, Meade TW (1987) Role of genetic variation at the fibrinogen locus in determination of plasma fibrinogen concentrations. Lancet I:1452–1455Google Scholar
- Jowett NI, Williams LG, Hitman GA, Galton DJ (1984) Diabetic hypertriglyceridaemia and related 5′ flanking polymorphism of the human insulin gene. Br Med J 288:96–99Google Scholar
- Kalsheker NA, Hodgson IJ, Watkins GL, White JP, Morrison HM, Stockley RA (1987) Deoxyribonucleic acid polymorphism of the α1-antitrypsin gene in chronic lung disease. Br Med J 294:1511–1514Google Scholar
- Karathanasis SK, Norum RA, Zannis VI, Breslow JL (1983) An inherited polymorphism in the human apolipoprotein A-1 gene locus related to the development of atherosclerosis. Nature 301:718–720Google Scholar
- Karathanasis SK, Ferris E, Haddad IA (1987) DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis. Proc Natl Acad Sci USA 84:7198–7202Google Scholar
- Kessling AM, Horsthemke B, Humphries SE (1985) A study of DNA polymorphisms around the human apolipoprotein A1 gene in hyperlipidaemic and normal individuals. Clin Genet 28:296–306Google Scholar
- Kessling AM, Berg K, Mockleby E, Humphries SE (1986) DNA polymorphisms around the apo AI gene in normal and hyperlipidaemic individuals selected for a twin study. Clin Genet 29:485–490Google Scholar
- Kimura M (1955) Solution of a process of random genetic drift with a continuous model. Proc Natl Acad Sci USA 41:144–158Google Scholar
- Knowler WC, Pettitt DJ, Vasquez B, Rotwein PS, Andreone TL, Permutt MA (1984) Polymorphism in the 5′-flanking region of the human insulin gene: relationship with non-insulin-dependent diabetes mellitus, glucose and insulin concentrations and diabetes in the Pima Indians. J Clin Invest 74:2129–2135Google Scholar
- Kostyu DD, Amos DB (1983) The histocompatibility complex: genetic polymorphism and disease susceptibility. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 77–95Google Scholar
- Krontiris TG, DiMartino NA, Colb M, Parkinson DR (1985) Unique allelic restriction fragments of the human Ha-ras locus in leukocyte and tumour DNAs of cancer patients. Nature 313:369–374Google Scholar
- Krontiris TG, DiMartino NA, Colb M, Mitcheson HD, Parkinson DR (1986) Human restriction fragment length polymorphisms and cancer risk assessment. J Cell Biochem 30:319–329Google Scholar
- Lamm LU, Olaisen B (1985) Report of the committee on the genetic constitution of chromosomes 5 and 6. Cytogenet Cell Genet 40:128–155Google Scholar
- Lappé M, Gustafson JM, Roblin R (1972) Ethical and social issues in screening for genetic disease. N Engl J Med 286:1129–1132Google Scholar
- Law A, Powell LM, Brunt H, Knott TJ, Altman DG, Rajput J, Wallis SC, Pease RJ, Priestley LM, Scott J, Miller GJ, Miller NE (1986) Common DNA polymorphism within coding sequence of apolipoprotein B gene associated with altered lipid levels. Lancet I:1301–1303Google Scholar
- Lawrance SK, Srivastava R, Rigas B, Chorney MJ, Gillespie GA, Smith CL, Cantor CR, Collins FS, Weissman SM (1986) Molecular approaches to the characterization of megabase regions of DNA: applications of the human major histocompatibility complex. Cold Spring Harbor Symp Quant Biol 51:123–130Google Scholar
- Lehrman MA, Russell DW, Goldstein JL, Brown MS (1986) Exon-alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. Proc Natl Acad Sci USA 83:3679–3683Google Scholar
- Leppert MF, Hasstedt SJ, Holm T, O'Connell P, Wu L, Ash O, Williams RR, White R (1986) A DNA probe for the LDL receptor gene is tightly linked to hypercholesterolaemia in a pedigree with early coronary disease. Am J Hum Genet 39:300–306Google Scholar
- Lewontin RC (1974) The genetic basis of evolutionary change. Columbia University Press, New YorkGoogle Scholar
- Lidereau R, Mathieu-Mahul D, Theillet C, Renaud M, Mauchauffé M, Gest J, Larsen CJ (1985) Presence of an allelic EcoRI restriction fragment of the c-mos locus in leukocyte and tumour cell DNAs of breast cancer patients. Proc Natl Acad Sci USA 82:7068–7070Google Scholar
- Mandrup-Poulsen T, Owerbach D, Mortensen SA, Johansen K, Meinertz H, Sørensen H, Nerup J (1984) DNA sequences flanking the insulin gene on chromosome 11 confer risk of atherosclerosis. Lancet I:250–252Google Scholar
- Mandrup-Poulsen T, Owerbach D, Johansen K, Nerup J (1985) DNA restriction fragment length polymorphism flanking the insulin gene. A genetic marker for diabetes mellitus or atherosclerosis? Ugeskr Laeger 147:2065–2070Google Scholar
- Marcadet A, Massart C, Semana G, Fauchet R, Sabourand O, Merienee M, Dausset J, Cohen D (1985a) Association of class II HLA-DO beta-chain DNA restriction fragments with multiple sclerosis. Immunogenetics 22:93–96Google Scholar
- Marcadet A, Cohen D, Dausset J, Fischer A, Durandy A, Griscelli C (1985b) Genotyping with DNA probes in combined immunodeficiency syndrome with defective expression of HLA. N Engl J Med 312:1287–1292Google Scholar
- Marcadet A, Gebehrer L, Betuel H, Seignalet J, Fredel AC, Confavreux C, Billiard M, Dausset J, Cohen D (1985c) DNA polymorphism related to HLA-DR2 DW2 in patients with narcolepsy. Immunogenetics, 22:679–683Google Scholar
- Mayo O, Street DJ (1986) Heterogeneity in disease associations. Hum Hered 36:89–92Google Scholar
- McDaniel O (1985) Association of a restriction fragment length polymorphism with seronegative spondyloarthropathies. 614th Meeting of the Biochemical Society, Oxford, 1985 (abstr)Google Scholar
- Michelson B, Lernmark Å (1987) Molecular cloning of a polymorphic DNA endonuclease fragment associates insulin-dependent diabetes mellitus with HLA-DQ. J Clin Invest 79:1144–1152Google Scholar
- Morris SW, Price WH (1985) DNA sequence polymorphisms in the apolipoprotein A-1/C-III gene cluster. Lancet II:1127–1128Google Scholar
- Mourant AE, Kopec AC, Domaniewska-Sobczak K (1978) Blood groups and diseases. Oxford University Press, OxfordGoogle Scholar
- Nakamura Y, Leppert M, O'Connell P, Wolff R, Holm T, Culver M, Martin C, Fujimoto E, Hoff M, Kumlin E, White R (1987) variable number of tandem repeat (VNTR) markers for human gene mapping. Science 235:1616–1622Google Scholar
- Nepom GT, Seyfried CE, Holbeck SL, Wilske KR, Nepom BS (1986) Identification of HLA-Dw14 genes in DR4+ rheumatoid arthritis. Lancet II:1002–1005Google Scholar
- Oberlé I, Drayna D, Camerino G, White R, Mandel JL (1985) The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Proc Natl Acad Sci USA 82:2824–2828Google Scholar
- Olerup O, Fredrikson S, Olsson T, Kam-Hansen S (1987) HLA Class II genes in chronic progressive and in relapsing/remitting multiple sclerosis. Lancet II:327Google Scholar
- Onuki M, Iwamura Y, Humphries SE, Satoh J, Hattori N, Yamakawa K, Yamanouchi Y, Okafuji T, Hamaguchi H (1986) Apolipoprotein AI-CIII gene polymorphisms in a Japanese population. Jpn J Hum Genet 31:337–343Google Scholar
- Ordovas JM, Schaefer EJ, Salem D, Ward RH, Glueck CJ, Vergani C, Wilson PWF, Karathanasis SK (1986) Apolipoprotein A-1 gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia. N Engl J Med 314:671–677Google Scholar
- Ott J, Falk CT (1982) Epistatic association and linkage analysis in human families. Hum Genet 62:296–300Google Scholar
- Owerbach D, Nerup J (1982) Restriction fragment length polymorphism of the insulin gene in diabetes mellitus. Diabetes 31:275–277Google Scholar
- Owerbach D, Billesbolle P, Schroll M, Johansen K, Poulsen S, Nerup JP (1982) Possible association between DNA sequences flanking the insulin gene and atherosclerosis. Lancet II:1291–1293Google Scholar
- Owerbach D, Lernmark A, Platz P, Ryder LP, Rask L, Peterson PA, Ludvigson J (1983) HLA-D region beta-chain DNA endonuclease fragments differ between HLA-DR identical healthy and insulin-dependent diabetic individuals. Nature 303:815–817Google Scholar
- Owerbach D, Hagglof B, Lernmark A, Holmgren G (1984) Susceptibility to insulin-dependent diabetes defined by restriction enzyme polymorphism of HLA-D region genomic DNA. Diabetes 33: 958–965Google Scholar
- Pope FM, Cheah KSE, Nicholls AC, Price AB, Grosveld FG (1984) Lethal osteogenesis imperfecta congenita and a 300 bp gene deletion for an alpha-(1)-like collagen. Br Med J 288:431–434Google Scholar
- Powledge TM, Fletcher J (1979) Guidelines for the ethical, social and legal issues in prenatal diagnosis. N Engl J Med 300:168–172Google Scholar
- Price WH, Morris SW, Burgon R, Donald PM, Kitchin AH (1986) Apolipoprotein CIII polymorphism and coronary heart disease. Lancet II:1041Google Scholar
- Rees A, Stocks J, Shoulders CC, Galton DJ, Baralle FE (1983) DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia. Lancet I:444–446Google Scholar
- Rees A, Stocks J, Sharpe CR, Vella MA, Shoulders CC, Katz J, Jowett NI, Baralle FE, Galton DJ (1985a) Deoxyribonucleic acid polymorphism in the apolipoprotein A-1-C-III gene cluster association with hypertriglycerideamia. J Clin Invest 76:1090–1095Google Scholar
- Rees A, Stocks J, Williams LG, Caplin JL, Jowett NI, Camm AJ, Galton DJ (1985b) DNA polymorphisms in the apolipoprotein C-III and insulin genes and atherosclerosis. Atherosclerosis 58: 269–275Google Scholar
- Rees A, Stocks J, Paul H, Ohuchi Y, Galton D (1986) Haplotypes identified by DNA polymorphisms at the apolipoprotein-A-1 and CIII loci and hypertriglyceridaemia. Hum Genet 72:168–171Google Scholar
- Robbins E, Cohen N, Contu L, Dausset J (1986) A study of the HLA-D region in patients with classic Kaposi's sarcoma. Immunogenetics 24:115–117Google 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 213:1117–1120Google 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 308:65–71Google Scholar
- Rotwein P, Yokoyama S, Didier DK, Chirgwin JM (1986) Genetic analysis of the hypervariable region flanking the human insulin gene. Am J Hum Genet 39:291–299Google Scholar
- Saiki RK, Bugawan TL, Horn GT, Mullis KB, Erlich HA (1986) Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature 324:163–166Google Scholar
- Samanta A, Burden AC, Jowett NI, Galton DJ, Hosker JP, Turner RC (1987) Insulin secretion to glucose infusion in gestational diabetes subjects with differing DNA polymorphisms flanking the insulin gene. Diabetes Res 4:109–112Google Scholar
- Satoh J, Hattori N, Onuki M, Yamakawa K, Fujiwara H, Amamiya H, Nagaoka H, Sakuma T, Yamanouchi Y, Okafuji T, Iwamura Y, Tsuchiya S, Fukutomi H, Ohsuga T, Hamaguchi H (1987) Apolipoprotein AI-CIII gene polymorphisms in Japanese myocardial infarction survivors. Jpn J Hum Genet 32:15–20Google Scholar
- Schellenberg GD, Deeb SS, Boehnke M, Bryant EM, Martin GM, Lampe TH, Bird TD (1987) Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type. J Neurogenet 4:97–108Google Scholar
- Schmidtke J, Cooper DN (1987) A comprehensive list of cloned human DNA sequences. Nucleic Acids Res [Suppl] 15:r1-r51Google Scholar
- Schmidtke J, Cooper DN (1988) A comprehensive list of cloned human DNA sequences. Nucleic Acids Res [Suppl] 16 (in press)Google Scholar
- Schreuder GMT, Tilanus MGJ, Bontrop RE, Bruining GJ, Giphart MJ, Rood JJ van, Vries RRP de (1986) HLA-DQ polymorphism associated with resistance to type I diabetes detected with monoclonal antibodies, isoelectric point differences, and restriction fragment length polymorphism. J Exp Med 164:938–943Google Scholar
- Scott J, Knott TJ, Priestley LM, Robertson ME, Mann DV, Kostner G, Miller GJ, Miller NE (1985) High-density lipoprotein composition is altered by a common DNA polymorphism adjacent to apoprotein AII gene in man. Lancet I:771–773Google Scholar
- Schoenfeld Y, Schwartz RS (1984) Immunologic and genetic factors in autoimmune diseases N Engl J Med 311:1019–1029Google Scholar
- Shoulders CC, Baralle FE (1984) Apolipoprotein genes, DNA polymorphisms and hyperlipidemia. In: Proceedings of the 2nd Cologne Atherosclerosis Conference. Birkhäuser, Basel, pp 17–33Google Scholar
- Shoulders CC, Baralle FE (1986) Genetic polymorphism in the apo A-1-C III complex. Methods Enzymol 128:727–745Google Scholar
- Shoulders CC, Ball MJ, Mann JI, Baralle FE (1986) Genetic marker in apolipoprotein AI/CIII gene complex associated with hypercholesterolaemia. Lancet II:1286Google Scholar
- Sing CF, Davignon J (1985) Role of the apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation. Am J Hum Genet 37:268–285Google Scholar
- Steinmetz M, Uematsu Y, Lindahl KF (1987) Hotspots of homologous recombination in mammalian genomes. Trends Genet 3: 7–10Google Scholar
- Stocks J, Paul H, Galton D (1987) Haplotypes identified by DNA restriction fragment length polymorphisms in the AI-CIII-AIV gene region and hypertriglyceridemia. Am J Hum Genet 41:106–118Google Scholar
- Strominger JL (1986) Biology of the human histocompatibility leukocyte antigen (HLA) system and a hypothesis regarding the generation of autoimmune diseases. J Clin Invest 77:1411–1415Google Scholar
- Sturt E (1984) Analysis of linkage and association for diseases of genetic aetiology. Stat Med 3:57–72Google Scholar
- Svejgaard A, Jersild C, Nielsen LS, Bodmer WF (1974) HLA antigens and disease, statistical and genetical considerations. Tissue Antigens 4:95–105Google Scholar
- Svejgaard A, Platz P, Ryder L (1983) HLA and disease 1982 — a survey. Immunol Rev 70:193–218Google Scholar
- Sykes BC, Ogilvie DJ, Wordsworth BP (1985) Lethal osteogenesis imperfecta and a collagen gene deletion; length polymorphism provides an alternative explanation. Hum Genet 70:35–37Google Scholar
- Talmud P, Humphries S (1986) DNA polymorphisms and the apolipoprotein B gene. Lancet II:104Google Scholar
- Thein SL, Oscier DG, Flint J, Wainscoat JS (1986) Ha-ras hypervariable alleles in myelodysplasia. Nature 321:84–85Google Scholar
- Thomson G (1986) Determining the mode of inheritance of RFLP-associated diseases using the affected sib-pair method. Am J Hum Genet 39:207–221Google Scholar
- Tiwari J, Terasaki PI (1985) HLA and disease association. Springer, Berlin Heidelberg New YorkGoogle Scholar
- Trembath RC, Thomas DJB, Hendra TJ, Yudkin JS, Galton DJ (1987) Deoxyribonucleic acid polymorphism of the apoprotein AI-CIII-AIV gene cluster and coronary heart disease in non-insulin-dependent diabetes. Br Med J 294:1577–1578Google Scholar
- Utermann G, Kindermann I, Kaffarnik H, Steinmetz A (1984) Apolipoprotein E phenotypes and hyperlipidaemia. Hum Genet 65: 232–237Google Scholar
- Vadheim CM, Rotter JI, Maclaren NK, Riley WJ, Anderson CE (1986) Preferential transmission of diabetic alleles within the HLA gene complex. N Engl J Med 315:1314–1318Google Scholar
- Varmus HE (1984) The molecular genetics of cellular oncogenes. Annu Rev Genet 18:553–612Google Scholar
- Vella M, Kessling A, Jowett N, Rees A, Stocks J, Wallis S, Galton DJ (1985) DNA polymorphisms flanking the apo A-1 and insulin genes and type III hyperlipidaemia. Hum Genet 69:275–276Google Scholar
- Vogel F, Motulsky AG (1986) Human genetics, 2nd edn. Springer, Berlin Heidelberg New YorkGoogle Scholar
- Wainscoat JS, Hill AVS, Boyce AL, Flint J, Hernandez M, Thein SL, Old JM, Lynch JR, Falusi AG, Weatherall DJ, Clegg JB (1986) Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms. Nature 319:491–493Google Scholar
- Wake CT (1986) Molecular biology of the HLA class I and class II genes. Mol Biol Med 3:1–11Google Scholar
- Whayne TF, Alaupovic P, Curry MD, Lee ET, Anderson PS, Schechter E (1981) Plasma apolipoprotein B and VLDL-, LDL- and HDL-cholesterol as risk factors in the development of coronary artery disease in male patients examined by angiography. Atherosclerosis 39:411–424Google Scholar
- Willecke K, Schaefer R (1984) Human oncogenes. Hum Genet 66:132–142Google Scholar
- Yokoyama S (1983) Polymorphism in the 5′ flanking region of the human insulin gene and the incidence of diabetes. Am J Hum Genet 35:193–200Google Scholar
- Yokoyama S (1985) DNA polymorphism and the susceptibility to diabetes. Am J Med Genet 21:649–654Google Scholar
- Youssoufian H, Kazazian HH, Phillips DG, Aronis S, Tsiftis G, Brown VA, Antonarakis SE (1986) Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature 324:380–382Google Scholar
- Zannis VI (1986) Genetic polymorphism in human apolipoprotein E. Methods Enzymol 128:823–851Google Scholar
- Zannis VI, Breslow JL (1985) Genetic mutations affecting human lipoprotein metabolism. Adv Hum Genet 14:125–215Google Scholar
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