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


CONCLUSIONS
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.
Hsu
Chao-Chin
CC
Department of Obstetrics & Gynecology, China Medical University, Taichung, Taiwan, China.
Kuo
Pao-Lin
PL
Chuang
Louise
L
Lin
Ying-Hung
YH
Teng
Yen-Ni
YN
Lin
Yung-Ming
YM
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D041322:Chromosomes, Human, Y / Q000235:genetics*; D017931:DNA Primers; D000075364:Deleted in Azoospermia 1 Protein; D017353:Gene Deletion; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D009845:Oligospermia / Q000235:genetics; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D029589:Seminal Plasma Proteins / Q000235:genetics*; D013624:Taiwan; D013737:Testis / Q000033:anatomy & histology
C466623:BPY2 protein, human; C118459:CDY1 protein, human; C095668:DAZ1 protein, human; D017931:DNA Primers; D000075364:Deleted in Azoospermia 1 Protein; D009687:Nuclear Proteins; D011506:Proteins; D016601:RNA-Binding Proteins; D029589:Seminal Plasma Proteins