Publication Date:
1992-05-18
Description:
Triplet repeats are the sites of mutation in three human heritable disorders, spinal and bulbar muscular atrophy (SBMA), fragile X syndrome, and myotonic dystrophy (DM). These repeats are GC-rich and highly polymorphic in the normal population. Fragile X syndrome and DM are examples of diseases in which premutation alleles cause little or no disease in the individual, but give rise to significantly amplified repeats in affected progeny. This newly identified mechanism of mutation has, so far, been identified in two of the most common heritable disorders, fragile X syndrome and DM, and one rare disease, SBMA.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Caskey, C T -- Pizzuti, A -- Fu, Y H -- Fenwick, R G Jr -- Nelson, D L -- 1R01HD29256/HD/NICHD NIH HHS/ -- P30-HG00210/HG/NHGRI NIH HHS/ -- P30HD24064/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 1992 May 8;256(5058):784-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/1589758" target="_blank"〉PubMed〈/a〉
Keywords:
Female
;
Fragile X Syndrome/*genetics/physiopathology
;
Genetic Diseases, Inborn/*genetics/physiopathology
;
Humans
;
Male
;
Muscular Atrophy, Spinal/*genetics/physiopathology
;
*Mutation
;
Myotonic Dystrophy/*genetics/physiopathology
;
Pedigree
;
Repetitive Sequences, Nucleic Acid
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
