• PMID: 12414900
• Gene Name: DAZ1
• Condition: Spermatogenic failure
• Association: The findings of this study indicate that autosomal DAZL gene plays a role in human spermatogenesis
• Mutation: T54A polymorphisms, Y-chromosome microdeletion
• Population size: 279
• Population details: 163 infertile , 116 fertile
• Sex: Male
• Infertility type: Male infertility
• Associated genes: DAZL
• Other associated phenotypes: Azoospermia, Oligozoospermia, cryptorchidism, Sertoli cell only syndrome, severe hypospermatogenesis

Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure

Teng YN, Lin YM, Lin YH, Tsao SY, Hsu CC, Lin SJ, Tsai WC, Kuo PL.

Single-strand conformation polymorphism analysis of exon-containing genomic DNA segments of the deleted-in-azoospermia-like (DAZL) gene was performed in 160 infertile Taiwanese men presenting with severe oligozoospermia and nonobstructive azoospermia. An A-->G transition at nucleotide 386 in exon 3 was identified. The mutation is located within the RNA-recognition motif (aa 32-117) domain of the DAZL protein and will lead to Thr54-->Ala change (T54A) of DAZL protein. Analysis of cDNA from testicular tissue of infertile carriers showed absence of expression for the T54A allele, implying that the allele carrying T54A polymorphism is hardly, if ever, expressed. The frequencies of T54A allele in patients and the control group were 7.39% and 0.86%, respectively (P = 0.0003). The phenotypes varied significantly in cases with heterozygous T54A polymorphism, ranging from hypospermatogenesis and maturation arrest to Sertoli cell-only syndrome. A combination of DAZ gene deletion and T54A polymorphism did not worsen the phenotype. Our findings provide strong evidence for the role of the autosomal DAZL gene in human spermatogenesis. FAU - Teng, Yen-Ni AU - Teng YN AD - Department of Early Childhood Education and Nursery, Chia Nan University of Pharmacy and Science, Tainan 717, Taiwan. FAU - Lin, Yung-Ming AU - Lin YM FAU - Lin, Ying-Hung AU - Lin YH FAU - Tsao, Shu-Yi AU - Tsao SY FAU - Hsu, Chao-Chin AU - Hsu CC FAU - Lin, Shio-Jean AU - Lin SJ FAU - Tsai, Wan-Ching AU - Tsai WC