Document Detail

CAG repeat length variation in sperm from a patient with Kennedy's disease.
MedLine Citation:
PMID:  7757084     Owner:  NLM     Status:  MEDLINE    
Using a modified sperm typing protocol, the mutation frequency of the CAG repeat region at the androgen receptor locus has been measured using a rare semen sample from an individual with spinal and bulbar muscular atrophy (SBMA). Among 258 X chromosome-containing sperm, 19% had a repeat number equal to the donor's somatic DNA (47 repeats), 66% were expansions and 15% were contractions. The average expansion was 2.7 repeats. More than half of the expansions involved one or two repeats; the largest was 11 repeats. 68% of the contractions were also one or two repeats but six (16%) were very large (12-25 repeats). One contraction generated an allele in an intermediate size range (33-39 repeats). Such alleles have not been observed among more than 900 normal and SBMA X-chromosomes that have been examined. Comparison of the SBMA sperm typing results with mutation frequency data on normal alleles supports the hypothesis that trinucleotide repeat expansions may have a different molecular origin than contractions.
L Zhang; K H Fischbeck; N Arnheim
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human molecular genetics     Volume:  4     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1995 Feb 
Date Detail:
Created Date:  1995-06-29     Completed Date:  1995-06-29     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  303-5     Citation Subset:  IM    
Molecular Biology Program, USC, Los Angeles 90089-1340, USA.
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MeSH Terms
DNA / analysis
Lymphocytes / chemistry
Middle Aged
Muscular Atrophy, Spinal / genetics*
Polymerase Chain Reaction / methods
Receptors, Androgen / analysis,  genetics*
Repetitive Sequences, Nucleic Acid*
Spermatozoa / chemistry*
Grant Support
Reg. No./Substance:
0/Receptors, Androgen; 9007-49-2/DNA

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