RESUMEN
<p><b>OBJECTIVE</b>To investigate the correlation of male infertility with abnormality of chromosomal quantity and construction and with the deletion of DAZ gene copy in the AZFc region of Y chromosome.</p><p><b>METHODS</b>Included in the study were 247 azoospermic and 206 severe oligozoospermic patients, as well as 210 fertile men as controls. Multi-PCR and PCR-RFLP were used to analyze the deletion of DAZ gene copies in the AZFc region of Y chromosome. Chromosomal quantity and construction were detected by G-band in the 453 patients.</p><p><b>RESULTS</b>In the azoospermic and severe oligozoospermic patients, the incidences of chromosomal abnormality were 12.6% and 8.3%; the rates of complete DAZ deletion were 7.7% and 11.2%, and the rates of DAZ1/DAZ2 deletion were 7.3% and 4.9% respectively, but no deletion was detected in the controls.</p><p><b>CONCLUSION</b>There is a high frequency of chromosomal abnormality and DAZ gene copy deletion in patients with azoospermia and oligospermia, which suggests that chromosomal abnormality and partial and complete deletion of DAZ gene copy might be important genetic causes of Chinese male infertility.</p>
Asunto(s)
Humanos , Masculino , China , Epidemiología , Deleción Cromosómica , Cromosomas Humanos Y , Genética , Proteína 1 Delecionada en la Azoospermia , Dosificación de Gen , Infertilidad Masculina , Epidemiología , Genética , Oligospermia , Epidemiología , Genética , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Proteínas de Unión al ARN , Genética , Aberraciones Cromosómicas SexualesRESUMEN
<p><b>OBJECTIVE</b>To investigate the possible association between ZNF230 gene and azoospermia.</p><p><b>METHODS</b>Screening for mutation of all 6 exons of ZNF230 gene was performed by denaturing high performance liquid chromatography(DHPLC) in 99 patients with azoospermia and in 115 healthy men as controls.</p><p><b>RESULTS</b>An A-->G transition at nucleotide 316 in exon 6 was identified. There were significant differences in the distribution profiles of both allele and genotype frequencies between patient group and control group (P < 0.01 and P < 0.05, respectively). In addition,there was a statistically significant difference in the serum follicle stimulating hormone (FSH) level between the patients with GG/GA genotype and those with AA genotype (P < 0.05).</p><p><b>CONCLUSION</b>ZNF230 gene may be associated with azoospermia, and the A316G mutation may be correlated with the serum FSH level.</p>