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单核苷酸多态性(SNP)是指某一人群的正常个体基因组内特定核苷酸位置上存在不同碱基,且最少的一种等位基因频率不小于1%。是人类基因组中分布最为广泛、存在数量最多的一种变异,反映了个体表型、疾病易感性和对药物、环境因素反应的差异。作为第三代分子遗传标记,SNP的高密度性、稳定性和二态性使其具有易于分型检测的优势。而随着人类基因组单体型图(HapMap)计划的实施,由SNP等位位点组成的单体型也成为近年来遗传学研究的组成部分。现就精子生成和成熟相关基因SNPs与特发性男性不育易感性关系进行综述,并分析其在男性不育的病因学诊断等方面的应用前景和目前存在的问题。
A single nucleotide polymorphism (SNP) refers to the presence of different bases at specific nucleotide positions within a normal individual’s genome in a population, with a minimum of one allele frequency of not less than 1%. Is one of the most widely distributed and most abundant mutations in the human genome. It reflects the differences in phenotype, disease susceptibility and response to drugs and environmental factors. As the third generation of molecular genetic markers, the high density, stability and binary state of SNPs make them easy to type test. With the implementation of the HapMap project, haplotypes consisting of SNP alleles have also become part of genetic research in recent years. The relationship between SNPs of spermatogenesis and maturation related genes and the susceptibility to idiopathic male infertility is reviewed and its application prospects and existing problems in the diagnosis of male infertility are analyzed.