• PMID: 16491273
• Gene Name: DAZ1
• Condition: Infertility
• Association: It was observed that despite a homogeneous genetic defect in the Y chromosome, no clear genotype/phenotype correlation could be demonstrated in patients with complete AZFc deletion
• Mutation: AGFc deletions
• Population size: 460
• Population details: 460 infertile men
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: oligozoospermia or non-obstructive azoospermia

Uniform deletion junctions of complete azoospermia factor region c deletion in infertile men in Taiwan

Hsu CC, Kuo PL, Chuang L, Lin YH, Teng YN, Lin YM.

AIM: To determine the deletion junctions of infertile men in Taiwan with azoospermia factor region c (AZFc) deletions and to evaluate the genotype/phenotype correlation. METHODS: Genomic DNAs from 460 infertile men were examined. Bacterial artificial chromosome clones were used to verify the accuracy of polymerase chain reaction. Deletion junctions of the AZFc region were determined by analysis of sequence-tagged sites and gene-specific markers. RESULTS: Complete AZFc deletions, including BPY2, CDY1 and DAZ genes, were identified in 24 men. The proximal breakpoints were clustered between sY1197 and sY1192, and the distal breakpoints were clustered between sY1054 and sY1125 in all but one of the 24 men. The testicular phenotypes of men with complete AZFc deletion varied from oligozoospermia, to hypospermatogenesis, to maturation arrest. CONCLUSION: We identified a group of infertile men with uniform deletion junctions of AZFc in the Taiwan population. Despite this homogeneous genetic defect in the AZFc region, no clear genotype/phenotype correlation could be demonstrated. FAU - Hsu, Chao-Chin AU - Hsu CC AD - Department of Obstetrics & Gynecology, China Medical University, Taichung, Taiwan, China. FAU - Kuo, Pao-Lin AU - Kuo PL FAU - Chuang, Louise AU - Chuang L FAU - Lin, Ying-Hung AU - Lin YH FAU - Teng, Yen-Ni AU - Teng YN