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Mutation Analysis of the mtATPase6 Associated with Asthenospermia Patients
Long-Jin Jin, Chuan-Lian Li, Qian-Jin Fei1, Chun-Ling Zhang, Xue-Feng Huang 1,
Zhejiang Provincial Key Laboratory for Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035, China; 1Reproductive Medicine Center, First Affiliated Hospital, Wenzhou Medical College, Wenzhou 325001, China; 2
Abstract: This research attempted to investigate whether there was correlationship between mtATPase6 point mutation in sperms and asthenospermia. After 27 asthenospermia cases and 28 control cases were collected under the WHO criterion， the regions of nt 7908-8816 and 8602-9416 of them were amplified by using PCR of two pairs primers. Consequently， the point mutation， mutation rate as well as evolutionary conservation pattern were analyzed by employing sequencing technology and bioinformatics tools. As a result， 20 point mutations were found， among which six had never been identified before: A8586G， C8811T， T8825C， T8966C， C9071T and A9120G. Meanwhile， a significant difference (P<0.05) was detected in the average mutation rate between asthenospermia (1.52±0.98) and control groups (0.96±0.84)， which suggests that a remarkable increase of mtATPase6 average mutation rate may correlate with asthenospermia in asthenospermia group. The three specific missense point mutation， namely， the G8584A， A8701G and G9053A， may be potential polymorphism. Besides， the differences between asthenospermia (22.22%) and control groups (3.57%) were statistically significant (P<0.05) in terms of the cumulative mutation rates for the remaining six sites with evolution conservation， which may have the relationship with asthenospermia.
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