CAJ | 학술논문

目的　研究中国汉族RhD阴性［RhD(-)］个体Rh血型系统D基因8个外显子的构成情况。方法　应用聚合酶链反应-序列特异性引物(PCR-SSP)方法，对50名汉族人RhD(-)个体RHD基因及RHCE基因进行了研究。扩增RHD基因的第2、3、4、5、6、7、9、10外显子和内含子4，以及RHCE基因的第1、2、4、5外显子和内含子4。结果　50名RhD(-)供者的Rh表型为ccdee 22人，Ccdee 22人，ccdEe 3人，CcdEe3人。在表型为ccdee或ccdEe的25人中，D基因8个外显子全部缺失；在表型为Ccdee或CcdEe的25人中，RHD基因则表现出多态性：9人存在全部D基因8个外显子，7人缺失全部D基因8个外显子，5人存在D基因第2外显子，3人存在D基因第6外显子，1人存在D基因第2、6、10外显子。结论　中国汉族RhD(-)个体D基因外显子具有多态性。Rh表型为cc的个体D基因8个外显子全部缺失，在表型为Cc的个体中观察到5种D基因多态性。中国汉族人D基因结构不同于高加索人，故在应用RHD基因定型结果时，应慎重对待。
목적　연구중국한족RhD음성［RhD(-)］개체Rh혈형계통D기인8개외현자적구성정황。방법　응용취합매련반응-서렬특이성인물(PCR-SSP)방법，대50명한족인RhD(-)개체RHD기인급RHCE기인진행료연구。확증RHD기인적제2、3、4、5、6、7、9、10외현자화내함자4，이급RHCE기인적제1、2、4、5외현자화내함자4。결과　50명RhD(-)공자적Rh표형위ccdee 22인，Ccdee 22인，ccdEe 3인，CcdEe3인。재표형위ccdee혹ccdEe적25인중，D기인8개외현자전부결실；재표형위Ccdee혹CcdEe적25인중，RHD기인칙표현출다태성：9인존재전부D기인8개외현자，7인결실전부D기인8개외현자，5인존재D기인제2외현자，3인존재D기인제6외현자，1인존재D기인제2、6、10외현자。결론　중국한족RhD(-)개체D기인외현자구유다태성。Rh표형위cc적 개체D기인8개외현자전부결실，재표형위Cc적개체중관찰도5충D기인다태성。중국한족인D기인결구불동우고가색인，고재응용RHD기인정형결과시，응신중대대。
Objective To explore the genomic structure of 8 exons in D gene of RhD(-) Chinese Han population.Methods Polymerase chain reaction-sequence specific primers(PCR-SSP) were used to study genomic DNA from 50 samples of RhD(-) Chinese Han donors. Exons 2,3,4,5,6,7,9,10 of RHD gene and exons 1,2,4,5 of RHCE gene were specifically amplified, also intron 4 of them was amplified. Results Phenotypes of the 50 RhD(-) donors were:22 ccdee, 22 Ccdee, 3 CcdEe, 3 CcdEe. The 8 exons of RHD gene were completely absent in 25 donors with ccdee or ccdEe phenotype, while polymorphisms of D gene exons were found in 25 donors with Ccdee or CcdEe phenotype:the presence of all 8 exons of D gene in 9 donors, the absence of the 8 exons in 7 donors, the presence of exon 2 in 5 donors, the presence of exon 6 in 3 donors and the presence of exons 2,6,10 in 1 donor were demonstrated. Conclusion Polymorphisms of RHD gene exons were present among RhD(-) Chinese Han blood donors. The 8 exons of RHD gene were completely absent in donors with Rhesus cc phenotype, while 5 polymorphisms of RHD gene exons were found in donors with Rhesus Cc phenotype. The discrepancy of the RHD gene in RhD(-) individuals between Chinese Hans and Caucasians indicates that care should be exercised by clinicians in the use of the RhD genotyping results.