RESUMEN
<p><b>AIM</b>To complete comprehensive haplotype analysis of USP26 for both fertile and infertile men.</p><p><b>METHODS</b>Two hundred infertile men with severe oligospermia or non-obstructive azoospermia were subjected to sequence analysis for the entire coding sequences of the USP26 gene. Two hundred men with proven fertility were genotyped by primer extension methods. Allele/genotype frequencies, linkage disequilibrium (LD) characteristics and haplotypes of fertile men were compared with infertile men.</p><p><b>RESULTS</b>The allele frequencies of five single nucleotide polymorphisms (370-371insACA, 494T>C, 576G>A, ss6202791C>T, 1737G>A) were significantly higher in infertile patients than control subjects. The major haplotypes in infertile men were TACCGA (28% of the population), TGCCGA (15%), TACCAA (8%), TGCCAA (6%), TATCAA (5%) and CATCAA (5%). The major haplotypes for the control subjects were TACCGA (58% of the population), CACCGA (7%), CATCGA (6%) and TGCCGA (5%). Haplotypes TGCCGA, TATCAA, CATCAA, CATCGC, TACCAA and TGCCAA were over-transmitted in patients with spermatogenic defect, whereas haplotypes TACCGA, CACCGA, and CATCGA were under-transmitted in these patients.</p><p><b>CONCLUSION</b>Some USP26 alleles and haplotypes are associated with spermatogenic defect in the Han nationality in Taiwan, China.</p>
Asunto(s)
Adulto , Humanos , Masculino , Alelos , Azoospermia , Epidemiología , Genética , Cisteína Endopeptidasas , Genética , Cartilla de ADN , Frecuencia de los Genes , Variación Genética , Genotipo , Haplotipos , Infertilidad Masculina , Epidemiología , Genética , Desequilibrio de Ligamiento , Familia de Multigenes , Oligospermia , Epidemiología , Genética , Polimorfismo Genético , Espermatogénesis , Genética , Fisiología , Taiwán , EpidemiologíaRESUMEN
<p><b>AIM</b>To determine the deletion junctions of infertile men in Taiwan with azoospermia factor region c (AZFc) deletions and to evaluate the genotype/phenotype correlation.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>