福建地区稀有血型JK(a-b-)表型筛选及分子遗传学分析  

Study on phenotypic screening and molecular genetics of rare blood type Jk(a-b-) in donors of Fujian province

作　　者：张爱[1] 池泉[1] 林授[1] ZHANG Ai;CHI Quan;LIN Shou(Department of Clinical Laboratory, Fujian Provincial Blood Center, Fuzhou 350004, Fujian, Chin)

机构地区：[1]福建省血液中心检验科,福州350004

出　　处：《临床检验杂志》2018年第3期173-177,共5页Chinese Journal of Clinical Laboratory Science

基　　金：福建省自然科学基金(2014J01295)

摘　　要：目的了解福建地区无偿献血者Kidd血型系统中JK(a-b-)表型的分布频率并分析其遗传学特征。方法用尿素溶解试验筛查福建地区180 626例无偿献血者JK(a-b-)表型;用经典血清学方法确证其表型;对JK基因的启动子、11个外显子及其侧翼区域(50~150 bp)扩增后测序并分析序列信息;用SNa Pshot技术分析福建地区200例献血者JK基因的单核苷酸多态性(SNP)。结果 180 626例无偿献血者中检出15例JK(a-b-)表型个体。分析15例JK(a-b-)表型个体JK基因,检测出的4种隐性基因分别为JK*B(IVS5-1G>A)、JK*B(896G>A)、JK*A(130G>A,220A>G)和JK*B(130G>A,956C>T),这4种隐性基因分别占检出无效基因的66.67%、23.33%、6.67%和3.33%。分析上述200例献血者JK基因SNP发现,JK*B(IVS5-1G>A)为0.75%,JK基因的G130A是一种常见的多态性,未检测到A220G、C222T、C956T、G896A变异。结论福建地区无偿献血人群中JK(a-b-)表型频率估计约为0.008%,JK*B(IVS5-1G>A)和JK*B(896G>A)是该地区JK(a-b-)表型的主要流行基因,发现1个新的引起JK(a-b-)表型的JK-null基因,即SLC14A1 130A,220G。Objective To investigate the frequency of Jk（ a-b-） phenotype of Kidd blood type system in blood donors of Fujian province and its genetic characteristics. Methods The Jk（ a-b-） phenotype in the blood samples obtained from 180 626 donors were screened by using urea lysis assay and the suspected Jk（ a-b-） phenotype individuals were confirmed using conventional serological method. The genomic DNA covering the sequence from exon 1 to exon 11 of JK gene and respective flanking area（ 50-150 bp）,as well as the promoter were amplified by polymerase chain reaction,and the products of PCR were directly sequenced. The genotypes of 7 SNPs of JK gene in the blood samples from 200 blood donors of Fujian province were detected by SNa Pshot assay. Results Of180 626 blood donors,15 cases with Jk（ a-b-） phenotype were identified. The genomic analysis for the 15 cases revealed the four recessive JK-null alleles,i. e.,JK＊ B（ IVS5-1 G 〉 A）,JK＊ B（ 896 G〉 A）,JK＊ A（ 130 G 〉 A,220 A 〉 G） and JK＊ B（ 130 G〉 A,956 C T） were observed with frequency of 66. 67%,23. 33%,6. 67% and 3. 33%,respectively. SNa Pshot results showed the frequency of JK＊ B（ IVS5-1 G〉 A） was 0. 75% and G130 A was the common polymorphism. No A220 G,C222 T,C956 T and G896 A mutation was found in the 200 blood donors. Conclusion The frequency of Jk（ a-b-） blood type in the donors of Fujian population was estimated about 0. 008%. JK＊ B（ IVS5-1 G 〉A） and JK＊ B（ 896 G 〉A） alleles may be the predominate circulating genes in Fujian population with Jk（ a-b-） phenotype. Direct DNA sequencing revealed a novel allele leading to JK-null, SLC14 A1130 A,220 G.

关 键 词：KIDD血型 JK(a-b-)表型 尿素溶解试验 JK基因 基因测序 SNaPshot分型 

分 类 号：R457.11[医药卫生—治疗学]