Association of DAZL haplotypes with spermatogenic failure in infertile men.
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.
Teng
Yen-Ni
YN
Department of Early Childhood Education and Nursery, Chia Nan University of Pharmacy and Science, Tainan, Taiwan.
Lin
Yung-Ming
YM
Sun
Hsiao-Fang Sunny
HF
Hsu
Pei-Yang
PY
Chung
Chia-Ling
CL
Kuo
Pao-Lin
PL
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
C101358:DAZL protein, human; D016601:RNA-Binding Proteins