深圳地区儿童Kidd血型Jk(a-b-)表型筛选及分子机理研究

Genomic characterization of the Jk(a-b-) phenotype for children in Shenzhen,China

目的调查深圳地区人群中Jk(a-b-)表型检出率;探讨深圳地区Jk(a-b-)表型产生的分子机理。方法用尿素溶血实验筛选出Jk(a-b-)表型,采用微柱凝胶法进行Jk(a-b-)表型血清学确认试验,并对Jk(a-b-)表型标本进行DNA提取扩增及纯化测序。结果从20 453儿童标本中筛选出4例Jk(a-b-)表型,检出率为4∶20 453,分布频率为0.019 6。在对其中4名先证者基因分型中,共发现了2种基因型,纯合IVS5-1G>A,杂合IVS5-1G>A合并杂合896G>A。结论深圳地区人群中Jk(a-b-)表型分布频率明显高于国内其它地区,检测到的基因型IVS5-1G>A、杂合IVS5-1G>A合并杂合896G>A是中国人群中最常见的基因变异。

Objective To investigate the frequency and explore the genomic characterization of Jk （ a - b - ） phenotype in Shenzhen. Methods The Jk（ a - b - ） phenotype was screened by the urea lysis test. The Jk（ a - b - ） phenotypes were confirmed by an indirect anti-globulin test （IAT）. Additionally, polymerase chain reaction amplification and sequence analy- sis of the JK gene were performed. Results From 20 453 blood samples, four patients with Jk（ a - b - ） were selected, at a frequency of 0.019 6. Among these four samples available for sequencing JK gene, a total of two genotypes were discovered： homozygotes of IVSS-1G 〉 A and heterozygotes of IVSS-1G 〉 A combining with heterozygotes of 896G 〉 A. Conclusion The frequency of Jk （ a - b - ） in Shenzhen area was higher than the reported data from the populations in other areas of China. The genotype of homozygotes of IVSS-1G 〉A and heterozygotes of IVSS-1G 〉A combining with 896G 〉A constituted the most common mutation in the Chinese population.