【摘要】 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。更多还原

【Abstract】 Objective To study exon polymorphism of human RHD gene and investigate the genetic mechanism of RhD-negative individuals. Methods PCR using sequence-specific primers (PCR-SSP) was performed on 40 RhD-positive, 120 RhD-negative and 2 weak D blood samples. Results All 10 exons could be detected in the 40 RhD-positive and 2 weak D samples. Out of the 120 RhD-negative samples, 28 (23.33%) carried 10 exons, 19 (15.83%) lost most of the 10 exons (with mainly intermediate deletion), and 73 (60.83%) had deletion of all the 10 exons; 19 samples of Del phenotype identified from the 120 RhD-negative samples had all the 10 exons. Conclusion Polymorphism of the exon structure of RHD gene is present in RhD-negative individuals, characterized chiefly by gross deletion, partial deletion and non-deletion.更多还原