• PMID: 19597981
• Gene Name: CASP3
• Condition: Oligozoospermia
• Association: Associated
• Mutation: SCA1 (CAG repeats)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: SCA1
• Other associated phenotypes: Oligozoospermia

Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients

Lai YC, Wang WC, Yang JJ, Li SY.

PURPOSE: 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. FAU - Lai, Yen-Chein AU - Lai YC AD - School of Medical Laboratory and Biotechnology, Chung Shan Medical University, Taichung, Taiwan. FAU - Wang, Wen-Chung AU - Wang WC FAU - Yang, Jiann-Jou AU - Yang JJ