| STUDYING HUMAN MUTATIONS BY SPERM TYPING - INSTABILITY OF CAG TRINUCLEOTIDE REPEATS IN THE HUMAN ANDROGEN RECEPTOR GENE |
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| Author(s): ZHANG L, LEEFLANG EP, YU J, ARNHEIM N |
| Source: NATURE GENETICS Volume: 7 Issue: 4 Pages: 531-535 Published: AUG 1994 |
| Times Cited: 92 References: 22 |
| Abstract: Trinucleotide repeat mutations of normal alleles at the human androgen receptor locus were studied by typing similar to 4,300 sperm. Control experiments established that the mutation events were of germline origin. The mutation rate for 20-22 repeat alleles was similar to that shown by family analysis. Alleles with 28-31 repeats had a 4.4 times greater rate of mutation with contractions outnumbering expansions. Preliminary experiments on the trinucleotide repeat associated with myotonic dystrophy gave similar results although in one donor expansions were six times greater than contractions. Comparison of the sperm data to mutations of disease alleles in SBMA families suggests that expansions may have a different origin than contractions. |
| Document Type: Article |
| Language: English |
| Reprint Address: ZHANG, L (reprint author), UNIV SO CALIF, PROGRAM MOLEC BIOL, LOS ANGELES, CA 90089 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PA832 |
| ISSN: 1061-4036 |