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Volume 8, Issue 2 (March 2006) 8, 205–211; 10.1111/j.1745-7262.2006.00109.x
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 and Yung-Ming Lin
1.Department of Obstetrics & Gynecology, China Medical University, Taichung 400, Taiwan, China
2.Department of Obstetrics & Gynecology, National Cheng Kung University, College of Medicine, Tainan 704, Taiwan, China
3.The Institute of Basic Medical Science, National Cheng Kung University, College of Medicine, Tainan 704, Taiwan, China
4.Department of Early Childhood Education and Nursery, Chia Nan University of Pharmacy and Science, Tainan 717, Taiwan, China
5.Department of Urology, National Cheng Kung University, College of Medicine, Tainan 704, Taiwan, China
Correspondence: Dr Yung-Ming Lin, M.D., Department of Urology, National Cheng Kung University Medical College and Hospital, 138 Sheng-Li Road, Tainan 704, Taiwan, China. Fax: +886-6238-3678. E-mail: linym@mail.ncku.edu.tw
Received 17 May 2005; Accepted 8 November 2005.
| Abstract |
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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.
Keywords: azoospermia factor, BPY2, CDY1, deleted in azoospermia, Y chromosome
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