• PMID: 18958354
• Gene Name: USP26
• Condition: Spermatogenic defect
• Association: Associated
• Mutation: USP26 (370-371insACA, 494T>C, 576G>A, ss6202791C>T, 1737G>A)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: USP26
• Other associated phenotypes: Spermatogenic defect

Association of USP26 haplotypes in men in Taiwan, China with severe spermatogenic defect

Lee IW, Kuan LC, Lin CH, Pan HA, Hsu CC, Tsai YC, Kuo PL, Teng YN.

AIM: To complete comprehensive haplotype analysis of USP26 for both fertile and infertile men. METHODS: Two hundred infertile men with severe oligospermia or non-obstructive azoospermia were subjected to sequence analysis for the entire coding sequences of the USP26 gene. Two hundred men with proven fertility were genotyped by primer extension methods. Allele/genotype frequencies, linkage disequilibrium (LD) characteristics and haplotypes of fertile men were compared with infertile men. RESULTS: The allele frequencies of five single nucleotide polymorphisms (370-371insACA, 494T>C, 576G>A, ss6202791C>T, 1737G>A) were significantly higher in infertile patients than control subjects. The major haplotypes in infertile men were TACCGA (28% of the population), TGCCGA (15%), TACCAA (8%), TGCCAA (6%), TATCAA (5%) and CATCAA (5%). The major haplotypes for the control subjects were TACCGA (58% of the population), CACCGA (7%), CATCGA (6%) and TGCCGA (5%). Haplotypes TGCCGA, TATCAA, CATCAA, CATCGC, TACCAA and TGCCAA were over-transmitted in patients with spermatogenic defect, whereas haplotypes TACCGA, CACCGA, and CATCGA were under-transmitted in these patients. CONCLUSION: Some USP26 alleles and haplotypes are associated with spermatogenic defect in the Han nationality in Taiwan, China. CI - (c) 2008, Asian Journal of Andrology, SIMM and SJTU. All rights reserved. FAU - Lee, I-Wen AU - Lee IW AD - Department of Obstetrics & Gynecology, National Cheng Kung University, College of Medicine, Tainan 701, Taiwan, China. FAU - Kuan, Long-Ching AU - Kuan LC FAU - Lin, Chien-Hung AU - Lin CH FAU - Pan, Hsien-An AU - Pan HA FAU - Hsu, Chao-Chin AU - Hsu CC FAU - Tsai, Yung-Chieh AU - Tsai YC FAU - Kuo, Pao-Lin AU - Kuo PL