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

Chao Chin Hsu, Pao Lin Kuo, Louise Chuang, Ying Hung Lin, Yen Ni Teng, Yung Ming Lin

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)205-211
Number of pages7
JournalAsian Journal of Andrology
Volume8
Issue number2
DOIs
Publication statusPublished - 2006 Mar

All Science Journal Classification (ASJC) codes

  • Urology

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