• PMID: 16730721
• Gene Name: DAZL
• Condition: Spermatogenic failure
• Association: Associated
• Mutation: 260A>G, 386A>G, 520+34c>a, 584+28c>t and 796+36g>a. SNP 386A>G
• Population size: 422
• Population details: 422 (231 infertile men and 191 men with proven fertility)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Spermatogenic failure

Association of DAZL haplotypes with spermatogenic failure in infertile men

Teng YN, Lin YM, Sun HF, Hsu PY, Chung CL, Kuo PL.

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. DESIGN: Prospective case study. SETTING: University genetics laboratory and reproductive clinics. PATIENT(S): Two hundred thirty-one infertile men and 191 men with proven fertility. INTERVENTION(S): Single strand conformation polymorphism and sequence analysis for DAZL gene polymorphism screening were done for all subjects enrolled. MAIN OUTCOME MEASURE(S): Novel SNPs, allele/genotype frequencies, LD characteristics, and DAZL haplotypes between fertile and infertile men. RESULT(S): 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. CONCLUSION(S): Our study suggests the association of autosomal DAZL haplotypes with human spermatogenic failure. FAU - Teng, Yen-Ni AU - Teng YN AD - Department of Early Childhood Education and Nursery, Chia Nan University of Pharmacy and Science, Tainan, Taiwan. FAU - Lin, Yung-Ming AU - Lin YM FAU - Sun, Hsiao-Fang Sunny AU - Sun HF FAU - Hsu, Pei-Yang AU - Hsu PY FAU - Chung, Chia-Ling AU - Chung CL