title: Association of USP26 haplotypes in men in Taiwan, China with severe spermatogenic defect.
abstract: 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.
authors.affiliation: Department of Obstetrics & Gynecology, National Cheng Kung University, College of Medicine, Tainan 701, Taiwan, China.
authors.forename: I-Wen
authors.initials: IW
authors.lastname: Lee
authors.forename: Long-Ching
authors.initials: LC
authors.lastname: Kuan
authors.forename: Chien-Hung
authors.initials: CH
authors.lastname: Lin
authors.forename: Hsien-An
authors.initials: HA
authors.lastname: Pan
authors.forename: Chao-Chin
authors.initials: CC
authors.lastname: Hsu
authors.forename: Yung-Chieh
authors.initials: YC
authors.lastname: Tsai
authors.forename: Pao-Lin
authors.initials: PL
authors.lastname: Kuo
authors.forename: Yen-Ni
authors.initials: YN
authors.lastname: Teng
mesh_terms: 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
chemical_list: D017931:DNA Primers; C501866:USP26 protein, human; D003546:Cysteine Endopeptidases