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Test method for male fertility by detecting a mutation in the PGAM4 gene

机译:通过检测PGAM4基因突变来测试男性生育力的方法

摘要

An object of the present invention is to provide a test/diagnosis method for fertility which allows the estimation of the possibility of leading to pregnancy based on the ability of sperm to fuse with an egg and the identification of a cause of infertility; and a polynucleotide and a fertility testing kit which are used in the method. The present invention provides a test/diagnosis method for fertility, including a detection step of detecting on a biological sample taken from a human body, the presence or absence of a deletion or mutation in the human PGAM4 gene; a polynucleotide consisting of the base sequence of the human wild-type PGAM4 gene or the base sequence of the translation region of the gene, wherein the polynucleotide consists of a base sequence of 10-100 consecutive bases containing a mutated site of a single base substitution mutation having a high correlation with fertility; and a test kit for fertility comprising a reagent for detecting the presence or absence of a deletion or mutation in the human PGAM4 gene.
机译:本发明的一个目的是提供一种生育力的测试/诊断方法,该方法能够根据精子与卵融合的能力和确定不孕原因来估计导致怀孕的可能性。该方法中使用的多核苷酸和生育力检测试剂盒。本发明提供了一种关于生育力的测试/诊断方法,包括检测步骤,以检测从人体内获取的生物样品中人PGAM4基因中是否存在缺失或突变。由人野生型PGAM4基因的碱基序列或该基因的翻译区的碱基序列组成的多核苷酸,其中该多核苷酸由10-100个连续碱基的碱基序列组成,该碱基序列包含单个碱基取代的突变位点与生育率高度相关的突变;生育力测试试剂盒,其包含用于检测人PGAM4基因中是否存在缺失或突变的试剂。

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