期刊
ASIAN JOURNAL OF ANDROLOGY
卷 10, 期 6, 页码 896-904出版社
MEDKNOW PUBLICATIONS & MEDIA PVT LTD
DOI: 10.1111/j.1745-7262.2008.00439.x
关键词
single nucleotide polymorphism; USP26 gene; spermatogenic defect; linkage disequilibrium
资金
- National Science Council of Taiwan, China [NSC-91-2314-B-006-149, NSC 91-3112-B-006-008, NSC 92-3112-B-006-002, NSC 933112-B-006-004, NSC 93-2314-B-006-078, NSC 942320-B-041-002, NSC 95-2320-B-041-006]
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.
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