【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。更多还原

【Abstract】 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 pseudogeneψgene could be detected in all samples,but 1227G>A mutation could he demonstrated in 34 out of 42 Del samples.It is conclu- ded that the RHD-gene associated structure region exhibit full genetic background,but its significance in biology and genetics should be studied in more detail.更多还原