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

I-wen Lee; Long-ching Kuan; Chien-hung Lin; Hsien-an Pan; Chao-chin Hsu; Yung-chieh Tsai; Pao-lin Kuo; Yen-ni Teng

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

Author: I-Wen LEE ¹ ; Long-Ching KUAN ; Chien-Hung LIN ; Hsien-An PAN ; Chao-Chin HSU ; Yung-Chieh TSAI ; Pao-Lin KUO ; Yen-Ni TENG
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1. Department of Obstetrics & Gynecology, National Cheng Kung University, College of Medicine, Tainan 701, Taiwan, China.
Publication Type:Journal Article
MeSH: Adult; Alleles; Azoospermia; epidemiology; genetics; Cysteine Endopeptidases; genetics; DNA Primers; Gene Frequency; Genetic Variation; Genotype; Haplotypes; Humans; Infertility, Male; epidemiology; genetics; Linkage Disequilibrium; Male; Multigene Family; Oligospermia; epidemiology; genetics; Polymorphism, Genetic; Spermatogenesis; genetics; physiology; Taiwan; epidemiology
From: Asian Journal of Andrology 2008;10(6):896-904
CountryChina
Language:English
Abstract:
AIMTo complete comprehensive haplotype analysis of USP26 for both fertile and infertile men.
METHODSTwo 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.
RESULTSThe 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.
CONCLUSIONSome USP26 alleles and haplotypes are associated with spermatogenic defect in the Han nationality in Taiwan, China.