Summary
Recombinant DNA methodology has greatly increased our knowledge of the molecular pathology of the human genome at the same time as providing the means to diagnose inherited disease at the DNA level. Direct detection and analysis of a range of genetic defects are now possible using cloned gene or oligonucleotide probes or by direct sequencing of the disease gene(s). In addition, the use of restriction fragment length polymorphisms (RFLPs) within and around these genes as indirect genetic markers has now potentiated the tracking of disease alleles in affected pedigrees in cases where direct analysis was not feasible. RFLPs associated with linked anonymous segments may also be used not only to diagnose hitherto undetectable disease states, but also for chromosomal localization of the loci responsible. We present here an updated list of reports describing both the direct and the indirect analysis/diagnosis of human inherited disease; it is intended to serve as a guide to current molecular genetic approaches in diagnostic medicine.
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Abbreviations
- ADG:
-
Annales de Genetique
- AHG:
-
Ann. Hum. Genet.
- AICHG:
-
Abstracts Int. Congress Hum. Genet. 7, Berlin, 1986
- AJH:
-
Am. J. Haematol.
- AJHG:
-
Am. J. Hum. Genet.
- AJMG:
-
Am. J. Med. Genet.
- AN:
-
Aneuploidy
- ANYAS:
-
Ann. New York Acad. Sci
- APRT:
-
Adeninephosphoribosyltransferase
- ASHG:
-
American Soc. Hum. Genet. Abstracts 34th Ann. Meeting
- ATS VII:
-
Atherosclerosis VII, Eds. Fidge and Nestel, Elsevier
- Arch. Neurol.:
-
Archieves of Neurology
- Arch. Oph.:
-
Arch. Ophthalmol.
- Atherosclr.:
-
Atherosclerosis
- BBRC:
-
Biochim. Biophys. Res. Comm.
- BJH:
-
Brit. J. Haematol.
- BMJ:
-
Brit. Med. J.
- BST:
-
Biochem. Soc. Transact.
- CCG:
-
Cytogenet. Cell Genet.
- CDC:
-
Carrier detection using clonality
- CGC:
-
Cancer Genet. Cytogenet.
- DEL:
-
Deletion
- DETECT:
-
Mode of Detection
- Dis. Marker:
-
Disease Markers
- DUP:
-
Duplication
- EJB:
-
Eur. J. Biochem.
- EJI:
-
Eur. J. Immunol.
- HGM8:
-
Human Gene Mapping 8 (CCG, Vol. 40, 1–824, 1985)
- HGM9:
-
Human Gene Mapping 9 (CCG, Vol. 46, 1–824, 1987)
- HGM10:
-
Human Gene Mapping 10 (CCG, Vol. 51, 1–824, 1989)
- HPRT:
-
Hypoxanthinephosphoibosyltransferase
- HVR:
-
Hypervariable region
- Hos. Prac.:
-
Hospital Practice
- IMG:
-
Immunogenetics
- INS:
-
Insertion
- INV:
-
Inversion
- IZ:
-
Inter-zeta
- J. Mol. End.:
-
J. Molec. Endocrinol.
- JAMA:
-
J. Amer. Med. Assoc.
- JBC:
-
J. Biol. Chem.
- JCB:
-
J. Cell. Biol.
- JCEM:
-
J. Clin. Endocrinol. Metab.
- JCI:
-
J. Clin. Invest.
- JMD:
-
J. Inher. Metab. Dis.
- JIMM:
-
J. Immunogenet.
- JJCR:
-
Jpn. J. Cancer Res.
- JJHG:
-
Jpn. J. Hum. Genet.
- JMG:
-
J. Med.Genet.
- JNR:
-
J. Neurosci. Res.
- LH:
-
Loss of heterozygosity
- MBM:
-
Mol. Biol. Med.
- MCB:
-
Molec. Cell. Biol.
- MCKUS:
-
McKusick catalogue number
- MMP:
-
Mismatch pairing analysis
- MODY:
-
Maturity onset diabetes of the young
- MOL. END.:
-
Molec. Endocrinol.
- MUT:
-
Mutation
- NAR:
-
Nucl. Acids Res.
- NEJM:
-
New Engl. J. Med.
- Neurol. Sup.:
-
Neurology Supplement
- OLIGO:
-
Detection of mutation by oligonucleotide hybridisation
- OPG:
-
Ophthal. Pediatr. Genet.
- PNAS:
-
Proc. Natl. Acad. Sci. USA
- Ped. Res.:
-
Pediatric Res.
- PM:
-
Point mutation
- Pren. Diag.:
-
Prenatal Diagnosis
- RE:
-
Restriction enzyme analysis
- REAR:
-
Rearrangement
- RFLP:
-
Indirect analysis using likned RFLP
- SEQU:
-
Analysis by DNA sequencing
- SCMG:
-
Somat. Cell Molec. Genet.
- Thr. Res.:
-
Thrombosis Research
- XIA:
-
X-inactivation analysis
- ar:
-
alphoid repeat
- atyp.:
-
atypical
- breakp.:
-
breakpoint
- def.:
-
deficiency
- fruct.:
-
fructose
- haem.:
-
haemoglobin
- hered.:
-
hereditary
- minisat.:
-
minisatellite
- mt:
-
mitochondrial
- neph.:
-
nephritis
- persist.:
-
persistent
- phosph.:
-
phosphorylase
- resis.:
-
resistant
- phosph.:
-
phosphorylase
- resist.:
-
resistant
- sev.:
-
several
- synth.:
-
synthetase
- var:
-
various
References
Cooper DN, Clayton JR (1988) DNA polymorphism and the study of disease associations. Hum Genet 78:299–312
Cooper DN, Schmidtke J (1986) Diagnosis of genetic disease using recombinant DNA. Hum Genet 73:1–11
Cooper DN, Schmidtke J (1987) Diagnosis of genetic disease using recombinant DNA. Supplement. Hum Genet 77:66–75
Cooper DN, Schmidtke J (1989) Diagnosis of genetic disease using recombinant DNA. Second edition. Hum Genet 83:307–334
Cotton RGH (1989) Detection of single base changes in nucleic acids. Biochem J 263:1–10
Harper P, Frézal J, Ferguson-Smith M, Schinzel A (1988) Report of the committee on clinical disorders and chromosomal deletion syndromes. Cytogenet Cell Genet 49:254–257
Kazazian HH, Boehm CD (1988) Molecular basis and prenatal diagnosis of beta-thalassemia. Blood 72:1107–1116
McKusick VA (1990) Mendelian inheritance in man, 9th edn. Johns Hopkins University Press, Baltimore
Reiss J, Cooper DN (1990) Application of the polymerase chain reaction to the diagnosis of human genetic disease. Hum Genet 85:1–8
Rossiter BJF, Caskey CT (1990) Molecular scanning methods of mutation detection. J Biol Chem 265:12753–12756
Schmidtke J, Cooper DN (1990) A comprehensive list of cloned human DNA sequences. Nucleic Acids Res [Suppl] 18:2413–2547
Vogelstein B, Fearon ER, Hamilton SR, Preisinger AC, Willard HF, Michelson AM, Riggs AD, Orkin SH (1987) Clonal analyis using recombinant DNA probes from the X-chromosome. Cancer Res 47:4806–4813
Weatherall DJ, Clegg JB, Higgs DR, Wood WG (1989) The hemoglobinopathies. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 2281–2339
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Cooper, D.N., Schmidtke, J. Diagnosis of genetic disease using recombinant DNA. Third edition. Hum Genet 87, 519–560 (1991). https://doi.org/10.1007/BF00209011
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DOI: https://doi.org/10.1007/BF00209011