四例Rh弱D变异体的分子遗传学分析  

Molecular genetic analysis of four cases with weak D variant of Rh blood type

作　　者：贺云蕾 邓刚 许德义 梁伟 俞露 

机构地区：[1]浙江省宁波市中心血站,315000

出　　处：《中华医学遗传学杂志》2016年第6期837-840,共4页Chinese Journal of Medical Genetics

摘　　要：目的分析4例Rh血型弱D型变异体的分子机制。方法采用血清学方法检测RhD、C、c、E、e抗原表型，通过间接抗人球蛋白实验确认样本RhD血型表型；采用序列特异性引物聚合酶链反应检测RHD基因合子型，并对RHD基因的全部10个外显子及其邻近内含子序列测序分析。结果4例样本RhD血清学检测均为弱阳性。RHD基因外显子测序结果显示1号样本第1外显子第17位碱基C＞T变异，2号样本第1外显子第29位碱基G＞C变异，3号样本第9外显子第1212位碱基c＞A变异，4号样本第4内含子处存在IVS4＋5G＞A变异。RHD单体型分析发现4例样本均为杂合RHD基因型。根据RhesusBase的命名规则，4例标本分别为弱D31型、弱D71型、弱D72型及弱D82型。结论开展Rh弱D的血清学及分子生物学检测，将有助于深入了解其免疫学及遗传学特点，为制定正确的临床输血策略以及预防新生儿溶血病提供依据。Objective To explore the molecular basis of 4 cases with weak D variant of Rh blood type. Methods Routine serological testing was applied to determine the D, C, c, E and e antigens of the Rh blood group. The D antigen was further detected with an indirect antiglobulin test. RHD zygosity was detected by sequence-specific primer PCR method. All exons and flanking intron regions of the RHD gene were sequenced. Results The samples were determined as weak D phenotype by serological testing. DNA sequencing showed that the 4 cases were heterozygous for 17C〉T mutation in exon 1, 29G〉C mutation in exon 1, 1212C〉A mutation in exon 9, and IVS4＋ 5G〉A mutation in intron 4 of the RHD gene, respectively. According to the rule of Rhesus Base Nomenclature, the 4 samples were respectively named as weak D type 31, weak D type 71, weak D type 72, and weak D type 82. Conclusion Serological and molecular testing for the weak D can facilitate in-depth understanding of its immunology and genetics, and provide guidance for clinical blood transfusion and prevention of hemolytic disease in newborns.

关 键 词：RH血型 弱D型 突变 

分 类 号：R722[医药卫生—儿科] R4[医药卫生—临床医学]