Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients.
OBJECTIVE
The lengths of CAG repeats in two spinocerebellar ataxia genes, SCA1 and SCA3, were analyzed to determine whether such repeats exist in higher numbers in infertile males.


METHODS
Blood samples were collected from healthy controls, oligozoospermia patients, and azoospermia patients. DNA fragments containing target CAG repeats were amplified by PCR with template DNA purified from the blood samples. CAG repeats in PCR fragments were determined, using ABI PRISM 310 Gene Analyzer.


RESULTS
In SCA1, the distribution of CAG repeats in oligozoospermic males was different from that of the control group: More alleles had a repeat number that exceeded 32. Conversely, for SCA3, the examined oligozoospermia and azoospermia patients exhibited no differences in distribution of CAG repeats in comparison with the control group.


CONCLUSIONS
SCA1 in a subset of oligozoospermia patients has an increased number of CAG repeats.
Lai
Yen-Chein
YC
School of Medical Laboratory and Biotechnology, Chung Shan Medical University, Taichung, Taiwan.
Wang
Wen-Chung
WC
Yang
Jiann-Jou
JJ
Li
Shuan-Yow
SY
D000328:Adult; D000483:Alleles; D000067696:Ataxin-1; D000067699:Ataxin-3; D000067528:Ataxins; D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012097:Repressor Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA; D013997:Time Factors; D019680:Trinucleotide Repeat Expansion
C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3