Publication Date:
1987-06-19
Description:
An efficient strategy for mapping human genes that cause recessive traits has been devised that uses mapped restriction fragment length polymorphisms (RFLPs) and the DNA of affected children from consanguineous marriages. The method involves detection of the disease locus by virtue of the fact that the adjacent region will preferentially be homozygous by descent in such inbred children. A single affected child of a first-cousin marriage is shown to contain the same total information about linkage as a nuclear family with three affected children. Calculations show that it should be practical to map a recessive disease gene by studying DNA from fewer than a dozen unrelated, affected inbred children, given a complete RFLP linkage map. The method should make it possible to map many recessive diseases for which it is impractical or impossible to collect adequate numbers of families with multiple affected offspring.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lander, E S -- Botstein, D -- GM30467/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1987 Jun 19;236(4808):1567-70.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2884728" target="_blank"〉PubMed〈/a〉
Keywords:
*Chromosome Mapping/methods
;
*Consanguinity
;
DNA/*genetics
;
*Genes, Recessive
;
Genetic Diseases, Inborn/*genetics
;
Genetic Linkage
;
Homozygote
;
Pedigree
;
Polymorphism, Restriction Fragment Length
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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