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Volume 10, Issue 6 (November 2008) 10, 896–904; 10.1111/j.1745-7262.2008.00439.x
Association of USP26 haplotypes in men in Taiwan, China with severe spermatogenic defect
I-Wen Lee1, Long-Ching Kuan2, Chien-Hung Lin3, Hsien-An Pan1, Chao-Chin Hsu4, Yung-Chieh Tsai5, Pao-Lin Kuo1 and Yen-Ni Teng6
1 Department of Obstetrics & Gynecology, National Cheng Kung University, College of Medicine, Tainan 701, Taiwan, China
2 Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan 700, Taiwan, China
3 Institute of Basic Sciences, National Cheng Kung University, College of Medicine, Tainan 701, Taiwan, China
4 Department of Obstetrics and Gynecology, China Medical University, Taichung 404, Taiwan, China
5 Department of Obstetrics and Gynecology, Chi-Mei Medical Center, Tainan 710, Taiwan, China
6 Department of Biotechnology, Chia Nan University of Pharmacy and Science, Tainan 717, Taiwan, China
Correspondence: Prof. Yen-Ni Teng, Department of Biotechnology, Chia Nan University of Pharmacy and Science, 60 Erh-Jen Road, Sec. 1, Pao-An, Jen-Te Hsiang, Tainan 717, Taiwan, China. Fax: +886-6-266-2135. E-mail: tengyenni1@yahoo.com.tw
Received 20 February 2008; Accepted 3 July 2008.
| Abstract |
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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.
Keywords: single nucleotide polymorphism, USP26 gene, spermatogenic defect, linkage disequilibrium
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