KIR 2DL4基因测序分型中杂合碱基位置峰高不平衡现象及其意义
发布时间：2019-06-06 13:02
【摘要】：目的研究KIR 2DL4基因测序分型中序列及分型结果"异常"的原因。方法 2016年5月对KIR 2DL4基因测序分型时检出的2例杂合碱基位置峰高不平衡、判定为模棱两可结果或无完全匹配分型结果的标本,采集新鲜外周血样,提取mRNA,反转录成c DNA后,进行c DNA分子克隆和单体型测序;同时采用荧光定量法检测基因组DNA中2DL4基因的拷贝数。结果分子克隆和单体型测序表明,1例标本携带正常的KIR 2DL4*00102,*00501及*011等位基因;另一标本中检出了KIR 2DL4*00102,*00501及*00602等位基因。2例标本中均检出了3种不同的KIR 2DL4等位基因,无新等位基因检出。荧光定量PCR实验证实这2例标本KIR 2DL4拷贝数均为3个。结论人类KIR单体型上KIR 2DL4基因的拷贝数存在多样性,当出现杂合碱基位置峰高不平衡、无与之完全匹配分型结果,并非由新等位基因所致。
[Abstract]:Objective to study the causes of abnormal sequencing and typing of KIR 2DL4 gene. Methods two cases of heterozygous base position peak height imbalance were detected during sequencing and typing of KIR 2DL4 gene in May 2016. the samples were identified as ambiguous results or without perfect matching typing results. Fresh peripheral blood samples were collected and mRNA, was extracted and reverse transcribed into c DNA. C DNA molecular cloning and haplotype sequencing were carried out. At the same time, the copy number of 2DL4 gene in genomic DNA was detected by fluorescence quantitative method. Results Molecular cloning and haplotype sequencing showed that one sample carried normal KIR 2DL4 鈮，
本文编号：2494381
[Abstract]:Objective to study the causes of abnormal sequencing and typing of KIR 2DL4 gene. Methods two cases of heterozygous base position peak height imbalance were detected during sequencing and typing of KIR 2DL4 gene in May 2016. the samples were identified as ambiguous results or without perfect matching typing results. Fresh peripheral blood samples were collected and mRNA, was extracted and reverse transcribed into c DNA. C DNA molecular cloning and haplotype sequencing were carried out. At the same time, the copy number of 2DL4 gene in genomic DNA was detected by fluorescence quantitative method. Results Molecular cloning and haplotype sequencing showed that one sample carried normal KIR 2DL4 鈮，
本文编号：2494381
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