中国汉族和维吾尔族RHD基因结构的比较研究  

A comparative research on RHD gene structures of Chinese Han and Uigur population

作　　者：周华友[1] 白旭华 张印则 王从容[4] 曹琼[4] 兰炯采[4] 

机构地区：[1]广州中医药大学第二附属医院(广东省中医院)检验科,510120 [2]新疆建设兵团中心血站 [3]张家口市中心血站 [4]广州南方医院输血科

出　　处：《中华医学遗传学杂志》2006年第2期151-155,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(30271208)~~

摘　　要：目的对比研究中国汉族和新疆维吾尔族随机非血缘关系RhD阴性个体RHD基因结构。方法采用序列特异性引物-聚合酶链反应方法检测RHD基因的上、下游和杂交的Rhesus盒,以及RHD基因的10个外显子。结果RhD阴性个体RHD基因型检测结果显示,新疆维吾尔族人与同组汉族人RHD-/RHD-基因型组差异有统计学意义(94.44%vs61.40%,P<0.01),两者与RHD+/RHD-基因型组(该组代表RHD单基因组)比较差异有统计学意义(2.78%vs34.21%,P<0.01),但与RHD+/RHD+型组比较差异无统计学意义(2.78%vs4.39%,P>0·05)。78名汉族RhD阴性个体RHD单基因结构研究显示,53名(67.95%)为RHD(1-10)型(其中非表达的14名),15名(19.23%)为RHD-CE(2-9)-D2基因型,5人(6·41%)为RHD-CE(2-7)-D2基因型,2人(2.56%)与RHD-CE(3-6)-D型相似,1人(1.28%)为RHD-CE(5-6)-D型,2人为RHD-CE(6)-D或点突变。2名新疆维吾尔族RhD阴性个体RHD单基因型中1人为RHD(1-10)型,1人为RHD-CE(2-9)-D2。结论汉族RhD-/RHD+单基因型最常见非表达的等位基因依次为RHD-CE(2-9)-D2、RHD(1-10)、RHD-CE(2-7)-D2。新疆维吾尔族携带汉族常见而在白人罕见的非表达的RHD等位基因RHD-CE(2-9)-D2,显示维吾尔族和汉族两大民族基因的融合特征。Objective To research comparatively on the RHD gene structures in unrelated RhD negative individuals of Chinese Uigur and Han population. Methods The upstream, downstream, hybrid box and 10 exons of RHD gene were detected with suquenee specific primer-PCR technique. Results The results showed the genotypes of RhD negative individuals to have the significant difference between Chinese Uigur and Han population, that 94.44% Uigur individuals were with RHD-/RHD- genotype but just 61.40% Han population were with this genotype （94.44% versus 61.40 %, P 〈 0.01 ） ; 2.78 % Uigur individuals were with RHD^＋/RHD^- genotype but 34.21% Han population were with this genotype （2.78% versus 34.21 %, P 〈 0.01 ）. However, there was significantly no RHD＋/RHD＋ genotype difference between Chinese Uigur and Han population （2.78% versus 4.39%, P 〉 0.05）. In 78 eases of RhD negative Chinese Hans with single RHD gene, of which the RHD gene structure showed that 53 （67.95%） eases were RHD（1- 10） allele（of53 RHD（1-10） alleles, 14 alleles were unexpressed）; 15 （19.23%） were RHD-CE（2-9）-D2 allele; 5 （6.41%） eases were RHD-CE（2-7）-D2 allele; 2 （2.56%） were similar to RHD-CE（3-6）-D allele; 1（1.28%） ease was RHD-CE（5-6）-D allele; and 2 （2.56%） were RHD-CE（6）-D or point mutation respectively. Of 2 RhD negative Chinese Uignrs with RhD^-/RHD^＋ genotype, one carried RHD（1-10） allele, another carried RHD-CE（2-9）-D2 allele. Conclusion The most frequently unexpressed RHD alleles were RHD-CE（2-9）-D2, RHD（1-10） and RHD-CE（2-7）- D2 respectively in Chinese Han population who carried single RHD allele with RHD- phenotype and RHD ＋ genotype. It showed the confluent character of RH gene in Chinese Han and Uigur population that there existed unexpressed RHD-CE （2-9）-D2 allele in Chinese Uigur nationality, which was infrequent in Chinese Uigur population but frequent in Chinese Han population.

关 键 词：RHD基因 Rhesus盒 外显子 等位基因 基因分型 汉族 维吾尔族 

分 类 号：R394[医药卫生—医学遗传学] R714.5[医药卫生—基础医学]