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


CONCLUSIONS
Some USP26 alleles and haplotypes are associated with spermatogenic defect in the Han nationality in Taiwan, China.
Lee
I-Wen
IW
Department of Obstetrics & Gynecology, National Cheng Kung University, College of Medicine, Tainan 701, Taiwan, China.
Kuan
Long-Ching
LC
Lin
Chien-Hung
CH
Pan
Hsien-An
HA
Hsu
Chao-Chin
CC
Tsai
Yung-Chieh
YC
Kuo
Pao-Lin
PL
Teng
Yen-Ni
YN
D000328:Adult; D000483:Alleles; D053713:Azoospermia / Q000453:epidemiology / Q000235:genetics; D003546:Cysteine Endopeptidases / Q000235:genetics*; D017931:DNA Primers; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology* / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D005810:Multigene Family; D009845:Oligospermia / Q000453:epidemiology / Q000235:genetics; D011110:Polymorphism, Genetic; D013091:Spermatogenesis / Q000235:genetics* / Q000502:physiology*; D013624:Taiwan / Q000453:epidemiology
D017931:DNA Primers; C501866:USP26 protein, human; D003546:Cysteine Endopeptidases