昆明地区Rh阴性者RhD假基因(RhD ψ)和杂交RhD-CE-D基因的检测和医学应用  

The Detection of RhDψ pseudogene and RhD-CE-D Hybridization Gene and Medicine Application in Rh-negative ones of Kunming Area

作　　者：刘照刚[1] 钟树荣[1] 胡利平[1] 许冰莹[1] 景强[1] 

机构地区：[1]昆明医学院法医学院,650031

出　　处：《医学研究杂志》2009年第4期35-37,F0003,共4页Journal of Medical Research

基　　金：云南省教委自然科学基金(5J0345C)

摘　　要：目的用PCR基因分型技术分析研究昆明地区常住人口Rh阴性血型的D基因多态性,建立和完善本地区Rh血型的PCRRhD基因检测方法。方法收集46例Rh阴性血型样本,首先采用外显子-SSP进行PCR扩增,筛选出5例D基因部分存在型,再采用内含子-SSP进行PCR扩增,扩增产物用于DNA测序。结果在46例Rh阴性血型样本中,D基因完整缺失者29例(63%);D基因完整存在者12例(26.1%),存在全部外显子;D基因部分存在者5例(10.9%)。DNA测序结果显示,2例仅存在D基因的第10外显子的样本均为RhD-CE(3-9)-D杂合基因,1例存在D基因的第4、6外显子为RhD-CE(2-3,5,7-9)-D杂合基因,是新发现的变异等位基因。结论(1)昆明地区常住人群存在高频率的RhD-CE(3-9)-D杂合基因。(2)在昆明人群发现一种新型D变异等位基因即RhD-CE(2-3,5,7-9)-D杂合基因。Objective To study the D gene polymorphism of Rh - negative blood group in Kunming resident population with PCR technology for gene typing, and to establish and perfect PCR detecting method for RhD gene. Method 46 samples of Rh - negative blood samples were collected and PCR amplification with exon -SSP had been clone firstly. The samples of D gene part existing were screened, then PCR amplifying by intron - SSP had been conducted. The PCR amplification production with intron - SSP was used to DNA sequence. Results Among 46 Rh - negative samples, the number of D gene lost intacfly was 29 ; the complete existing one with all exons was 12. The sequencing results were that 2 samples of only containing D10 were RhD -CE（3 -9） -D and the sample with only D4 and D6 was the newly discovered variant allele RhD - CE（2 -3,5,7- 9） -D. RhD ψ was not found in our study. Conclusion （1） There is high frequency ofRhD-CE（3-9） -D in Kunming area. （2） A new variant allele of RhD-CE（2-3,5,7-9） -D is first found in Kunming area.

关 键 词：RH阴性血型 D基因 RhDψ假基因 杂交RhD-CE-D基因 PCR-SSP 

分 类 号：R457.11[医药卫生—治疗学] R394[医药卫生—临床医学]