【摘要】 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。更多还原

【Abstract】 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 analysis 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 IVS5-1G > A and heterozygotes of IVS5-1G > A combining with heterozygotes of 896 G > 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 IVS5-1G > A and heterozygotes of IVS5-1G > A combining with 896 G > A constituted the most common mutation in the Chinese population.更多还原