Association of CFTR gene polymorphism with congenital bilateral absence of vas deferens in ethnic Han Chinese patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association between a 5T polymorphism in intron 8 of cystic fibrosis transmembrane conductance regulator (CFTR) gene and congenital bilateral absence of vas deferens (CBAVD) in Han Chinese males.</p><p><b>METHODS</b>Genomic DNA from 33 individuals with CBAVD and 99 azoospermic males with CBAVD were recruited. The 5T polymorphism was detected with PCR, TA cloned and sequenced.</p><p><b>RESULTS</b>CFTR gene mutations were identified in 17 (51.5%) of patients with CBAVD. In 3 patients (17.6%), the mutations were identified on both alleles. Nine CFTR gene mutations (9.1%) were detected in 99 azoospermic patients, for whom none had mutations on both alleles.</p><p><b>CONCLUSION</b>This study has confirmed molecular heterogeneity of CFTR mutations in CBAVD. For CBAVD patients without 5T mutations, other changes may be found in the same gene.</p>

Genetic defect in Chinese azoospermic patients and their relationship with reproductive hormones / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the incidence of abnormal karyotypes and Y chromosome microdeletion in Chinese men with azoospermia, and the relationship with reproductive hormones.</p><p><b>METHODS</b>Four hundred and eighty nine cases of azoospermic patients and 20 fertile men were studied. Karyotypes and Y chromosome microdeletion were analyzed by G-banding and mutiplex polymerase chain reaction, respectively. Chemiluminescene immunoassay technique was applied to measure the serum levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T), and prolactine (PRL).</p><p><b>RESULTS</b>Chromosome abnormalities were found in 102 out of 489 azoospermic patients (20.86%), among them 86 (84.31%) cases had sex chromosome abnormalities, with 73 cases being Klinefelter syndrome. Y chromosome microdeletions were detected in 58 (11.86%) cases out of the 489 patients, and deletion of the AZFc region was the leading group (63.8% of all deletions), followed by AZFbc (19.0%), AZFabc (10.3%), AZFb or AZFa (3.4%). FSH, LH levels were significantly increased and T level was decreased in azoospermic patients compared with the fertile men group (P<0.01). Furthermore, in the azoospermic patients with Klinefelter syndrome or AZFabc microdeletions, FSH and LH levels were increased more significantly, and were statistically different from azoospermic patients with normal karotype or without Y chromosome microdeletion (P<0.05).</p><p><b>CONCLUSION</b>In the Chinese men with azoospermia, the incidence of abnormal karyotype and Y chromosome microdeletion were similar to those described previously in other populations. In azoospermia with Klinefelter syndrome or AZFabc microdeletions, FSH and LH levels increased markedly indicating the protracted stimulation of gonadotrophs due to lack of androgen feedback.</p>

Effect of ornidazole on sperm in rats and its mechanism of action / 中华男科学杂志

<p><b>OBJECTIVE</b>To explore the reductive effect of ornidazole on sperm motility in rats and its mechanism of action.</p><p><b>METHODS</b>Twenty rats were randomly divided into three groups, a low dosage group (LD group, n = 5), a high dosage group (HD group, n = 8) and a normal control group (n = 7). Ornidazole (200 mg/kg, 400 mg/kg) was given to the LD and HD groups, and 0.5% carboxymethylcellulose sodium (CMC) administered to the normal control, all for 20 consecutive days. Immediately after, sperm density, motility and the morphological changes of the testis and epidiclymis were measured, and the concentrations of lactate dehydrogenase (LDH), alpha-glycosidase, malondialdehyde (MDA) and fructose in the testis and epididymis tissues were monitored.</p><p><b>RESULTS</b>Compared with the normal control, there were no obvious changes in sperm density (P > 0.05), but a significant decrease in sperm motility in the LD and HD groups (P < 0.01), and the concentration of LDH obviously declined (P < 0.01) while that of MDA distinctly increased in the HD group (P < 0.05).</p><p><b>CONCLUSION</b>Spermatogenic cells could be damaged by the increase of inhibiting MDA, while sperm motility could be decreased by inhibiting energetic transferase or non-protein substance in the epididymis. This might be one of the mechanisms of ornidazole on weak sperm models in rats.</p>