Rh缺失型D--个体及家庭成员的血型鉴定与遗传分析

BLOOD GROUPING AND GENETIC ANALYSIS OF RH DELETION D--INDIVIDUALS AND THEIR FAMILY MEMBERS

目的:分析Rh缺失型D--个体及其家庭成员的血型鉴定结果和遗传背景.方法:采集产妇及其家庭成员血液标本鉴定ABO血型、Rh血型,并对产妇及其子进行抗体释放试验(DAT)及抗人球蛋白试验,采用序列特异性引物聚合酶链反应(PCR-SSP)法扩增产妇及其家庭成员的RHD、RHCE基因特异性序列,分析扩增产物.结果:产妇、其丈夫、患儿、其女、其母、其姐、其兄ABO血型鉴定结果显示均为A型,其妹为AB型.产妇Rh血型为D--,存在C、c、E、e抗原缺失现象;其夫及两子女Rh血型均为D+C+c-E-e+,均有C、e抗原.产妇DAT试验阴性,患儿DAT实验阳性(++);抗体鉴定阴性;产妇抗人球蛋白试验强阳性,与所有细胞均发生强凝集(+++),产妇自身对照无凝集.产妇及其家庭成员PCR结果证实,产妇RHD基因未见异常,亦未检出RHCE基因的特异性序列;其他家庭成员均有正常表型及RHCE基因产物,且产妇及其家庭成员PCR结果与血型学表型基因相符.结论:RHCE基因缺失可能是引起Rh缺失型D--的重要分子基础.

Objective:To analyze the results of blood grouping and genetic background of Rh deletion D--individuals and their family members.Methods:Blood samples of puerpera and her family members were collected to identify ABO blood type and Rh blood type;the blood samples of puerpera and her son were performed direct antiglobulin test(DAT)and anti-human-globulin test.RHD and RHCE gene-specific sequences of puerpera and her family members were amplified by PCR-sequence specific primers(PCR-SSP),and the amplification products were analyzed.Results:The ABO blood type of puerpera,her husband,son,daughter,mother,elder sister and elder brother were all A type,while her younger sister was AB type.The Rh blood type of puerpera was D--,with C,c,E and e antigen deletion.The Rh blood type of puerpera’s husband and two children were all D+C+c-E-e+,with C and e antigen.The result of puerpera DAT was negative,while the son was positive(++);The results of anti-human-globulin test were negative;The result of anti-human globulin test was strongly positive,and showed strong agglutination with all cells(+++),and without agglutination with puerpera her own.The PCR results confirmed that there was no abnormality in the puerpera RHD gene and no specific sequence of RHCE gene was detected;Other family members had normal phenotype and RHCE gene products.Moreover,The PCR results of puerperae and her family members were consistent with blood type phenotypegenes.Conclusions:RHCE gene deletion maybe the important molecular basis causing Rh deletion D--.