Publication Date:
1987-09-25
Description:
The gene responsible for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) maps to the X chromosome short arm, band Xp21. In a few females with DMD or BMD, the Xp21 region is disrupted by an X-autosome translocation. Accumulating evidence suggests that the exchange has physically disrupted the DMD/BMD locus to cause the disease. One affected female with a t(X;21)(p21;p12) translocation was studied in detail. The exchange points from both translocation chromosomes were cloned, restriction-mapped, and sequenced. The translocation is reciprocal, but not conservative. A small amount of DNA is missing from the translocated chromosomes; 71 to 72 base pairs from the X chromosome and 16 to 23 base pairs from the 28S ribosomal gene on chromosome 21.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bodrug, S E -- Ray, P N -- Gonzalez, I L -- Schmickel, R D -- Sylvester, J E -- Worton, R G -- New York, N.Y. -- Science. 1987 Sep 25;237(4822):1620-4.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3629260" target="_blank"〉PubMed〈/a〉
Keywords:
Base Sequence
;
*Chromosomes, Human, Pair 21
;
Cloning, Molecular
;
DNA, Ribosomal/genetics
;
Female
;
Humans
;
Muscular Dystrophies/*genetics
;
Pedigree
;
RNA, Ribosomal/genetics
;
*Translocation, Genetic
;
*X Chromosome
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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