Association of USP26 haplotypes in men in Taiwan, China with severe spermatogenic defect
Article first published online: 11 NOV 2008
© 2008, Asian Journal of Andrology, SIMM and SJTU.
Asian Journal of Andrology
Volume 10, Issue 6, pages 896–904, November 2008
How to Cite
Lee, I.-W., Kuan, L.-C., Lin, C.-H., Pan, H.-A., Hsu, C.-C., Tsai, Y.-C., Kuo, P.-L. and Teng, Y.-N. (2008), Association of USP26 haplotypes in men in Taiwan, China with severe spermatogenic defect. Asian Journal of Andrology, 10: 896–904. doi: 10.1111/j.1745-7262.2008.00439.x
- Issue published online: 11 NOV 2008
- Article first published online: 11 NOV 2008
- Received 2008-02-20 Accepted 2008-07-03
- single nucleotide polymorphism;
- USP26 gene;
- spermatogenic defect;
- linkage disequilibrium
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.