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人RHD基因结构研究及意义 被引量:2

Investigation on structure of human RHD gene and its significance
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摘要 目的 :研究RHD基因结构 ,重点检测启动子区 ,探究RHD基因的表达机制 .方法 :采用PCR SSP方法 ,设计 3对序列特异性引物 ,对 6 0例无血源关系RhD(+)汉族人样本、98例无血源关系RhD(- )汉族人样本和 2例弱D型汉族人样本RHD基因启动子区约 10 0 0bp范围内的 4个RHD基因特异性多态性位点进行检测 .结果 :RhD表型 (- ) /RHD基因型 (- )个体启动子区全缺失 ,表型RhD阴性基因型为部分缺失或不缺失型个体启动子区都不缺失 .结论 :RhD表型 (- ) /RHD基因型 (- )个体符合RhD阴性的普遍机制 ,表型RhD阴性基因型为部分缺失或不缺失型个体存在另一种RhD阴性机制 . AIM: To analyze structure of RHD gene, emphasizing on detecting promoter of RHD gene, and to investigate mechanism of RHD expressing. METHODS: 60 samples of unrelated RhD(+) Hans, 98 samples of RhD(-) Hans and 2 samples of weak D were detected by PCR-SSP with 3 pairs of primers. RESULTS: Promoters of individuals with RhD (-) phenotype /RHD (-) genotype were absent, while promoters of the RhD-negative individuals carrying the partial or intact RHD gene were present. CONCLUSION: Deletion of RHD gene in individuals with RhD (-) phenotype /RHD (-) genotype responds for mechanism of RHD negative , and there may exist another mechanism of RhD negative in individuals with RhD (-) phenotype and RHD partial deletion or non-deletion.
出处 《第四军医大学学报》 北大核心 2004年第18期1659-1662,共4页 Journal of the Fourth Military Medical University
基金 国家自然科学基金资助项目 (30 2 71 2 0 8)
关键词 RHD基因 启动区(遗传学) 聚合酶链反应-序列分析 DNA引物 表型 基因型 RHD genes promoter regions (genetics) polymerase chain reaction sequence analysis DNA primers phenotype genotype
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参考文献11

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共引文献54

同被引文献17

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