福建地区稀有血型JK(a-b-)表型筛选及分子遗传学分析
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福建省自然科学基金(2014J01295)。


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

    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SNaPshot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。

    Abstract:

    Abstract: 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 K 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 SNaPshot assay. Results:Of 180 626 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(IVS5-1G>A), JK*B(896G>A), JK*A(130G>A, 220A>G) and JK*B(130G>A, 956C>T) were observed with frequency of 66.67%, 23.33%, 6.67% and 3.33%, respectively. SNaPshot results showed the frequency of JK*B(IVS5-1G>A) was 0.75% and G130A was the common polymorphism. No A220G, C222T, C956T and G896A 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(IVS5-1G>A) and JK*B(896G>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, SLC14A1 130A, 220G.

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张爱,池泉,林授.福建地区稀有血型JK(a-b-)表型筛选及分子遗传学分析[J].临床检验杂志,2018,(3):173-177

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  • 收稿日期:2017-12-19
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  • 在线发布日期: 2018-04-16
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