福建地区汉族人群弱D表现型分子机制研究  

Study of molecular genetic basis of weak D phenotype individuals of Han population in Fujian province

作　　者：任本春[1] 池泉[1] 卓孝福[1] 张爱[1] 

机构地区：[1]福建省血液中心,福州350004

出　　处：《福建医药杂志》2013年第1期39-45,共7页Fujian Medical Journal

基　　金：福建省卫生厅青年科研课题资助计划项目(2009-1-37)

摘　　要：目的探讨福建地区汉族人群弱D表现型个体的分布及分子机制。方法采用血型血清学方法从献血者人群及患者中筛检弱D表现型(包括弱D和部分D)个体,对其进行RhC、c、E、e抗原表型检测;采用PCR-SSP(序列特异性引物-聚合酶链反应)方法检测其RHD基因和RHCE基因,测序分析RHD基因全长编码区序列;同时通过特异性PCR技术测定其RHD合子型。结果血清学试验证实为弱D表现型的32例个体中,弱D 20型为2例、弱D RHD(R113R)为3例、弱D 15型为2例、弱D RHD(L320L)为3例、弱D RHD(N340I)为1例、弱D RHD(F214L)为1例、弱DRHD(K409K)为1例、Dva为1例、DⅥⅢ型为2例,其余16例未见RHD基因全长编码区序列变异。RhC、c、E、e抗原检测,Ccee18例,CcEe4例,CCEe4例,ccEe3例,其他3例,其分子生物学检测与血清学一致。RHD杂合性试验显示20例标本为纯合型RHD+/RHD+,其余12例为杂合型RHD+/RHD-。结论与其他地区相比,福建地区汉族人群弱D表现型个体有不同的表型和不同的分子机制。Objective To investigate the distribution and molecular genetic basis of weak D phenotype individuals in Fu- jian province, the southern-eastern area of china. Methods All samples were tested by serologic blood grouping assays for their phenotypes. Weak D phenotype individuals were identified from the non-related blood donors and patients by indirect antiglohulin test （IAT）. The genotype of RHD was studied by using poiymerase chain reaction with sequence-specific primers （PCR-SSP）, and all 10 RHD exons were sequenced. The number of RHD was detected through PCR-SSP. Results Thirty-two samples were identified as weak D phenotypes by blood group serologic tests. Weak D type 20, Weak D RHD （Rll3R）, Weak D type 15, Weak D RHD （N340I）, Weak D RHD （L320L）, Weak D RHD （F214L）, Weak D RHD （K409K）, Dva, D~ type 111 were found in 2, 3, 2, 3, 1, 1, 1, 1, 2 weak D phenotype individuals, respectively. The molecular mechanism was undiscovered in the rest of 16 individuals. RhC, e, E, e antigens detected by serologic test were Ccee in 18 samples, CcEe in 4, CCEe in 4, ccEe in 3, others in 3, which were consistent with the results genotyped by PCR-SSP. RHD＋/ RHD4- homozygotes were de- tected in 20 samples, and the others were RHD-k/ RHD-- heteozygotes. Conclusion There are significant differences in distri- bution and molecular mechanism of weak D phenotype individuals of Han population in Fujian province compared to those of oth- er areas in china.

关 键 词：弱D 部分D RHD基因 序列分析 

分 类 号：R392.1[医药卫生—免疫学]