浙江汉族RhDEL表型的分子机理研究  

Molecular Basis of Rh DEL Phenotype in Zhejiang Han Population

作　　者：陈安心[1] 吴俊杰 徐凤娟[1] 张丽英[1] 倪映华[1] 傅启华[2] 

机构地区：[1]金华市中心医院输血科,金华321000 [2]浙江省血液中心输血研究所卫生部血液安全研究重点实验室,杭州310006

出　　处：《中国实验血液学杂志》2006年第5期1029-1032,共4页Journal of Experimental Hematology

基　　金：金华市科技局基金项目(编号2004-1-343);浙江省自然科学基金项目(编号M303194)

摘　　要：为了研究浙江汉族RhDEL表型的分子机理,用吸收放散的血清学方法鉴定RhDEL表型,然后用RHD基因特异的聚合酶链反应-序列特异性(PCR-SSP,polymerase chain reaction-sequence specific prime)和序列分析方法鉴定DEL表型RHD基因的10个外显子和外显子-内含子连接区域可能的变异。结果表明:在122例浙江汉族Rh阴性血型中共检测到35例DEL表型个体,其中RhCCdee、RhCcdee和RhCcdEe表型分别有6例(17.14%)、28例(80.00%)和1例(2.86%)。序列分析发现,RhDEL表型个体的第9外显子都有1227G>A突变。D杂合性试验发现,有29例(RhCcdee,28例;RhCcdEe,1例)存在RHD基因的缺失,有6例(RhCCdee)不存在RHD基因的缺失。结论:RHD1227A是浙江汉族RhDEL表型个体的重要遗传标记。This study was purposed to investigate the molecular basis of Rh DEL phenotype. Rh DEL phenotypes were identified by a serologic adsorption-elution method, the nucleotide sequences of ten RHD exons and exon-intron boundary regions were evaluated by a RHD gene-specific PCR-SSP （PCR-SSP, polymerase chain reaction- sequence specific primer） and sequencing. The results showed that out of 122 random Rh negative donors 35 Rh DEL phenotypes were identified through serologic method, including 6 RhCCdee（ 17.14% ）, 28 RhCcdee（80.00% ） , and 1RhCcdEe（2. 86% ）. Sequence analysis indicated that all DEL phenotypes harbored a RHD 1227 G 〉 A mutation in exon 9. D zygosity test revealed that 29 DEL phenotypes （28 RhCcdee and 1 RhCcdEe） had one RHD gene deleted , and 6 DEL phenotypes （6 RhCCdee） had homogenous RHD gene. It is concluded that RHD 1227A is an important genetic marker for Rh DEL phenotype in Zhejiang Han population.

关 键 词：RH DEL表型 RHD 1227A等位基因 浙江汉族 

分 类 号：R457.11[医药卫生—治疗学] R457.1[医药卫生—临床医学]