中国人群中发现的主要弱D型——弱D15个体的分子背景研究  

Molecular Background of Weak D Type 15 as the Predominant Weak D Type Found in Chinese Population

作　　者：孙国栋[1] 段现民 张彦平[1] 尹志柱 牛小利 李艳凤[2] 赵有良[1] 牛海江 

机构地区：[1]邯郸市中心血站输血研究室,邯郸056001 [2]河北省委党校卫生所,石家庄0560061

出　　处：《中国实验血液学杂志》2006年第5期1024-1028,共5页Journal of Experimental Hematology

摘　　要：为了探讨中国汉族人群弱D15型个体的Rh血型系统血型血清学表型及分子背景,采用常规血型血清学技术检测RhD抗原弱阳性个体RhD、C、c、E、e抗原表型;采用序列特异性引物-聚合酶链反应(SSP-PCR)方法同时检测RHD基因和RHCE基因;标本测序分析RHD基因全长编码区序列;同时通过特异性PCR技术测定RHD合子型或RHD基因数目。结果表明,血型血清学试验证实为D抗原弱阳性表型的人群中,有18例为弱D15型(占D抗原弱阳性表型56%),RHD基因全长编码区序列分析发现其第6外显子有一处碱基突变:845G>A,编码区序列其它部分与正常RHD序列相同;检测Rh小因子有3种表型CcEe(2例)、CcEe(2例)、ccEe(14例),分别占弱D15型的11%、11%、78%,血清学检测结果与分子生物学检测结果一致。RHD杂合性试验鉴定显示仅表型为CcEe的2例标本为纯合型RHD+/RHD+,提示基因型为DCe/DcE;其余为杂合型RHD+/RHD-,提示基因型分别是DCe/dce和DcE/dce。结论:弱D15型是中国人群中最主要的弱D型,其中大部分为杂合型。This study was aimed to investigate the molecular genetic basis and serological phenotype of Rh weak D type 15 individuals. Samples were identified by serological tests and genotyped by sequence specific primer-PCR（ SSPPCR）, and were sequenced to detect the changes of all ten RHD exons. The number of gene RHD was detected through SSP-PCR. The results showed that in tested individuals of weak D type confirmed by the I.AT, 18 cases（56% in weak D）were weak D type 15. Rh factors found in 2 weak D type 15 individuals （11%） were C ＋ c ＋ E ＋ e; Rh factors found in 2 weak D type 15 individuals （11%） were C ＋ c ＋ E-e ＋ ; others（78% ） were c-c ＋ E ＋ e ＋. The results by serological tests were consistent with the results genotyped by PCR-SSP method. In all 18 samples, the sequencing result revealed a gene mutation 845G 〉 A at the exon 6 of the RHD and the point mutation changed amino acid G282D of the RhD polypeptide. The zygosity test demonstrated that 2 out of 18 weak D type 15 individuals were RHD ＋/RHD ＋ homozygous （two DCe/DcE）, 16 cases were RHD^＋/RHD^- heterozygous （two DCe/dce and fourteen DcE/dce）. It is concluded that Weak D type 15 is predominant in weak D individuals of Chinese Han Nationality, and most of them are heterozygous with various RH haplotypes.

关 键 词：弱D型 弱D15 RHD基因 RHCE基因 基因突变 序列分析 

分 类 号：R457.11[医药卫生—治疗学] R457.1[医药卫生—临床医学]