title: Association of DAZL haplotypes with spermatogenic failure in infertile men.
abstract: OBJECTIVE
  To identify novel DAZL single nucleotide polymorphisms (SNPs) and to compare allele/genotype frequencies, linkage disequilibrium (LD) characteristics, and DAZL haplotypes between fertile and infertile men.
  
  
  METHODS
  Prospective case study.
  
  
  METHODS
  University genetics laboratory and reproductive clinics.
  
  
  METHODS
  Two hundred thirty-one infertile men and 191 men with proven fertility.
  
  
  METHODS
  Single strand conformation polymorphism and sequence analysis for DAZL gene polymorphism screening were done for all subjects enrolled.
  
  
  METHODS
  Novel SNPs, allele/genotype frequencies, LD characteristics, and DAZL haplotypes between fertile and infertile men.
  
  
  RESULTS
  Five SNPs were identified: 260A>G, 386A>G, 520+34c>a, 584+28c>t and 796+36g>a. SNP 386A>G was significantly associated with spermatogenic failure and was mainly heterozygous in infertile patients. The major haplotypes in infertile men were AACTA (45.8%), followed by AACCG, AAATA, AAACG, and GGACG for 260A>G/386A>G/520+34c>a/584+28c>t/796+36g>a. The major haplotypes for the control subjects were AACCG (41.7 %), AAATA, and AACTA. Of all haplotypes, five showed significant differences in frequency between infertile men and control subjects. Haplotypes AACTA, AAACG, and GGACG were overtransmitted in patients with spermatogenic failure, whereas haplotypes AACCG and AAATA were undertransmitted in these patients.
  
  
  CONCLUSIONS
  Our study suggests the association of autosomal DAZL haplotypes with human spermatogenic failure.
authors.affiliation: Department of Early Childhood Education and Nursery, Chia Nan University of Pharmacy and Science, Tainan, Taiwan.
authors.forename: Yen-Ni
authors.initials: YN
authors.lastname: Teng
authors.forename: Yung-Ming
authors.initials: YM
authors.lastname: Lin
authors.forename: Hsiao-Fang Sunny
authors.initials: HF
authors.lastname: Sun
authors.forename: Pei-Yang
authors.initials: PY
authors.lastname: Hsu
authors.forename: Chia-Ling
authors.initials: CL
authors.lastname: Chung
authors.forename: Pao-Lin
authors.initials: PL
authors.lastname: Kuo
mesh_terms: D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D009845:Oligospermia / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D016601:RNA-Binding Proteins / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors; D013624:Taiwan / Q000453:epidemiology
chemical_list: C101358:DAZL protein, human; D016601:RNA-Binding Proteins