Kit comprising primer pair for detecting genetic marker related to male infertility

Abstract

The invention discloses a male infertility related genetic marker, the sequence of which is that of the UBE2B gene. The binding site of the UBE2B gene's promoter region and the transcription factor SP1 undergoes mutation, and the mutation site is one or more of Chr.133706771T>A, Chr.133706876T>G and Chr.133706925A>G. By large-scale sequencing, four new mutation sites of the UBE2B gene's promoter region are selected from male infertility patients, a transcription factor plasmid is cotransfected into cells together with a wild type plasmid and a mutant plasmid respectively, and experiments find significant function differences and show that mutation of the UBE2B gene's promoter region is relevant to male infertility (especially azoospermia). Therefore, diagnosis detection of male infertility can be realized through the mutation.

Description

[0001] This application is a divisional application with an application date of September 2, 2014, an application number of 201410444434.0, and an application title of a genetic marker related to male infertility. technical field [0002] This application relates to the field of male infertility detection. Background technique [0003] Infertility has attracted more and more attention and has become a worldwide problem that needs to be solved urgently. The pathogenic factors of male infertility are characterized by complexity and diversity, but the specific pathogenesis is still unclear. At present, the exploration of the pathogenesis of male infertility mainly focuses on genetic factors, and 15% of infertility cases in the world are caused by gene mutations. [0004] Current studies suggest that male infertility is largely due to the dysfunction of related genes involved in spermatogenesis, resulting in abnormal spermatogenesis. The process of spermatogenesis and maturati...

AI Technical Summary

Problems solved by technology

Recently, some foreign studies believe that mutations in the 5' UTR of the UBE2B gene promoter also lead to an increased risk of male infertility. , the deletion of either one or both CGG sequences will enhance the affinity of specific β1 glycoprotein (SP1) to the UBE2B promoter, which may lead to male infertility

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