Journal of Andrology
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Published-Ahead-of-Print April 2, 2009, DOI:10.2164/jandrol.108.007187

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Phenotypic Expression of Partial AZFc Deletions is Independent of the Variations in DAZL and BOULE in a Han Population

PU CHEN , MINGYI MA , LEI LI , SIZHONG ZHANG , DAN SU , YONGXIN MA , YONGQIANG LIU , DACHANG TAO , LIN LI , and YUAN YANG *

* To whom correspondence should be addressed. E-mail: yangyuan{at}scu.edu.cn.

DAZ on Y chromosome and two autosomal ancestral genes DAZL and BOULE are suggested to present functional conservation in spermatogenesis. The partial AZFc deletion, a common mutation of Y chromosome, always involves two DAZ copies and presents the differently spermatogenic phenotype in the populations studied. In order to investigate whether the variations in DAZL and BOULE influence partial AZFc deletion phenotype, the genotyping of 15 variation loci including 4 known mutations and 11 SNPs in DAZL and BOULE was carried out in 157 azoo/oligzoospermic men and 57 normozoospermic men both with partial AZFc deletions. The frequencies of the alleles, genotypes and haplotypes of the variations were compared between the two groups. As a result, for 9 exonic variations in DAZL and BOULE, only T12A was observed in both groups with similar frequency and I71V was identified in an azoospermic man with b2/b3 deletion while the rest were absence in the population. The distribution of DAZL haplotypes arisen from 4 variations including T12A and BOULE haplotypes from 2 SNPs was similar between men with normozoospermia and spermatogenic failure. Our findings indicate that the contribution of DAZL and BOULE variations to spermatogenic impairment of men with DAZ defect is greatly limited, suggesting that expression of spermatogenic phenotype of partial AZFc deletions is independent of the variations in DAZL and BOULE in the Han population.


Key words: Infertility • Reproductive Genetics • Spermatogenesis






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