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目的研究人RHD基因外显子多态性,探讨中国人RhD阴性个体遗传学机制。方法用PCR-SSP法检测40例RhD(+)、120例RhD(-) 和2例弱D型样本的10个外显子。结果40例RhD阳性和2例弱D型样本均检出RHD 基因的10个外显子,120例RhD阴性样本中28例样本的10个外显子全存在(占23.33%),19例样本10个外显子部分存在(占15.83%),大部分为中间缺失型,73例样本10个外显子全缺失(占60.83/%)。从120例RhD阴性样本中检出的19例Del型样本均能检出RHD 基因的10个外显子。结论RhD表型阴性个体的RHD基因外显子结构具有多态性,主要表现为RHD基因全缺失、RHD基因部分缺失、RHD基因不缺失3种。
Objective To study the exon polymorphism of human RHD gene and to explore the genetic mechanism of RhD negative individuals in China. Methods Ten exons of RhD (+), 120 RhD (-) and two weak D type were detected by PCR-SSP. Results The 10 exons of RHD gene were detected in 40 cases of RhD positive and 2 cases of weak D type. The 10 exons of 28 cases (23.33%) were found in 120 cases of RhD negative samples and 19 cases Ten exons (15.83%) were found, most of them were deletional deletions. All 73 exons were deleted (60.83%). Nineteen Del-type samples detected from 120 RhD-negative samples were able to detect 10 exons of RHD gene. Conclusion RhD phenotype negative individuals RHD gene exon structure polymorphism, mainly as a complete RHD gene deletion, RHD gene partial deletion, RHD gene is not missing three.