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Abstract To investigate the mutations situation of the sperm mitochondrial DNA cytochrome B (CYTB) gene of patients with asthenozoospermic. Methods: The spermatozoal DNA samples from 134 patients with asthenozoospermic and 129 healthy men were extracted. PCR was performed to the amplification of the mitochondrial DNA CYTB gene, and then the products were sequenced and were compared with the Cambridge Standard Sequence (rCRS). Chi-square test and other methods were used to analyze the mutations of the CYTB gene. Results: The mutations of the mitochondrial DNA CYTB gene were predominantly synonymous and missense. The 15301G/A and 15326A/G heterozygous mutation of the mitochondrial DNA CYTB gene of the patients with asthenozoospermia had increased significantly, and the 15535C/T heterozygous mutation had exclusively found in the normal men, and the differences of which had statistically significant (P<0.05). Conclusion: The mutation of the sperm mitochondrial DNA CYTB of the patients is associated with their asthenozoospermia. The 15301G/A and 15326A/G heterozygous mutation of the mitochondrial DNA CYTB gene of the patients may be the risk factors of their asthenozoospermia occurrence, while the 15535C/T mutation may decrease the risk of their asthenozoospermia.
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