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Analysis of the mt ND2 Gene Polymorphisms Associated with Asthenospermia Patients
Jiu-Jia Zheng1, Xue-Feng Huang2, Zong Yang1, Xu Yang2, Li-Ya Zhang2, Jian-Xin Lü1, Long-Jin Jin1*
1Zhejiang Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035,China;2Reproductive Medicine Center, First Affiliated Hospital, Wenzhou Medical College, Wenzhou 325001, China
Abstract: This research attempted to investigate whether there was correlationship between mt ND2 gene polymorphisms in sperms and asthenospermia. After 134 asthenospermia cases and 112 control cases were collected under the WHO criterion， the ND2 gene variation of them were detected by using sequencing or bidirectional PCR amplification of specific alleles(Bi-PASA) technology. Consequently， We analyze ND2 gene polymorphisms in the asthenospermia and controls. Heteroplasmic mutation of m.5442T>C and m.5466A>G were detected by DHPLC. Then， a total of 34 nucleotide variations were found in ND2 genes in asthenospermia and controls， six of them were the reported for the first time in this study. The frequencies of single point mutation of m.5351A>G， m.5460G>A
and m.5466A>G in asthenospermia were significantly higher than those in the controls (P<0.05). However， frequencies of m.5442T>C mutation in the controls was significantly higher than those in the asthenospermia(P<0.05). The percents of grade a and grade (a+b) sperm in mutation samples(with m.5460G>A or m.5466A>G mutation) were significantly lower than that in non-mutation samples(P<0.001). However， the percents of grade a and grade (a+b) sperm in m.5442T>C mutation samples were significantly higher than that in non-mutation samples (P<0.001). ND2 gene polymorphisms may have some correlation with sperm motility. The m.5460G>A and m.5466A> G mutation may impair sperm motility，whereas the m.5442T>C polymorphisms may have benefit for sperm motility.
and m.5466A>G in asthenospermia were significantly higher than those in the controls (P<0.05). However， frequencies of m.5442T>C mutation in the controls was significantly higher than those in the asthenospermia(P<0.05). The percents of grade a and grade (a+b) sperm in mutation samples(with m.5460G>A or m.5466A>G mutation) were significantly lower than that in non-mutation samples(P<0.001). However， the percents of grade a and grade (a+b) sperm in m.5442T>C mutation samples were significantly higher than that in non-mutation samples (P<0.001). ND2 gene polymorphisms may have some correlation with sperm motility. The m.5460G>A and m.5466A> G mutation may impair sperm motility，whereas the m.5442T>C polymorphisms may have benefit for sperm motility.
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