相关基因多态性片段的研究  

Study on RHD-gene associated structure region in Chinese population

作　　者：兰炯采[1] 周华友[1] 吴穗元 白旭华 王晓珠 

机构地区：[1]南方医科大学南方医院,广州510515 [2]穗兴有限公司,广州510620 [3]新疆建设兵团中心血站,乌鲁木齐830002 [4]秦皇岛血站,秦皇岛066001

出　　处：《现代免疫学》2007年第3期244-247,共4页Current Immunology

基　　金：国家自然科学基金(30271208)

摘　　要：研究中国人RHD基因相关结构区的特征。采用PCR-SSP技术对随机非血缘关系RhD阳性样本100例,RhD阴性样本228例和Del样本42例的RHD基因的Rhesus盒、启动子区、第4内含子、ψ假基因、第9外显子1227G>A突变点研究。结果:存在RHD基因序列的样本(RHD^+/RHD^+,RHD^+/RHD)可测出启动子区3个多态性位点,有第4外显子者均有第4内含子,所有样本都检查不到RHDψ,34/42例Del样本可检测到1227G>A突变点。中国人RHD基因相关结构区有丰富的遗传背景,其生物学意义和遗传学意义有待进一步探讨。The characteristics of the RHD-gene associated structure region in Chinese population was studied by means of the PCR-SSP technique on 100 sample of the PhD-positive,228 samples of the PhD-negative and 42 samples of Del individuals of Chinese population. It was demonstrated that three polymorphic loci of promoter region were found in all samples with RHD gene sequence（RHD^＋/RHD^＋ ,RHD^＋/RHD）, in which the samples with exon 4 also possesed intron 4, no RHD pseudogene ψ gene could be detected in all samples, but 1227G〉A mutation could be demonstrated in 34 out of 42 Del samples. It is concluded that the RHD-gene associated structure region exhibit full genetic background, but its significance in biology and genetics should be studied in more detail.

关 键 词：RHD基因 内含子 外显子 假基因(ψ) 

分 类 号：R457.11[医药卫生—治疗学]