产生抗D的DVI type3型孕妇免疫血清学和RHD基因型分析

摘要

Objective:To performe the immuneserological and RHD Genotype analyses for DVI type 3 genotype pregnemt women with anti-D.Methods:RhD blood type of this pregnant women was identified by common serological methods,then the blood group specific antibodies was screened and identified;the polymerase chain reaction-sequence specific primer(PCR-SSP)was used to identify the pregnant women's RHD genotype;RhD blood group for the pregnant women,her spouse and daughter was genogrouped and genetically analyzed by multiplex ligation-dependent probe amplification(MLPA).The heredity of this family was analyzed finally.Results:The titer of IgG anti-D in the pregnant woman serum was 1 ∶ 8;the PCR-SSP showed that the 3rd to 6th exons of RHD gene were missing in the pregnant woman,the genotype of pregnant woman was identified as DVI type 3;the MLPA analysis showed that this pregnant women owned only one RHD allele with 3rd to 6th exons missed,and her genotype was identified as CDVIe/cde;her spouse was identified as CDe/CDe homozygous genotype,and her daughter as CDe/CDVI e.Conclusion:Accurate identification of RhD blood type is of great significance for a safe and effective clinical blood transfusion strategy,and for taking appropriate measures to prevent hemolytic disease of newborn (HDN) at women childbearing%目的:对部分D表型孕妇进行免疫血清学和RHD基因型分析.方法:采用常规血型血清学方法鉴定孕妇RhD血型,并进行血型特异性抗体筛查和鉴定;采用序列特异性引物聚合酶链反应(polymerase chain reaction-sequence specific primer,PCR-SSP)鉴定孕妇RH基因型;采用多重连接依赖的探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)对孕妇及其配偶和女儿的RhD血型抗原进行基因分型及遗传分析.结果:该孕妇血清中检测出IgG抗-D,其抗体效价为1∶8.PCR-SSP结果显示,该孕妇RHD基因第3-6外显子缺失,经鉴定该孕妇RHD基因型为DVI type 3型.MLPA分析显示,该孕妇只有1条RHD等位基因,且缺失3-6外显子,其基因型为CD VIe/ cde,其配偶为CDe/ CDe纯合子基因型,女儿为CDe/ CD VIe基因型.结论:准确的RhD血型鉴定对制定安全有效的临床输血策略和对育龄妇女采取恰当措施及预防新生儿溶血病具有重要意义.