【摘要】 目的研究番禺地区献血人群中Jk(a-b-)表型的分布特点。方法用2mol/L尿素攻膜试验(96孔微量板法)筛选出阴性(不溶血)样本,然后作血清学表型鉴定,对Jk(a-b-)表型进行基因分型及基因组DNA编码区外显子4-11及其侧翼区的分段扩增和测序。结果从本站2004年6月-2006年8月献血的50034名汉族人中筛选出10例Jk(a-b-)表型,频率为0.02%;发现3种突变序列:1)Intron5:3’剪切位点AG>AA,Exon7:nt588A>G、AA196CCA(Pro)>CCG(Pro),推测基因型为JKb(△6)/JKb(△6);2)Exon5:nt222C>A、AA74AAC(Asn)>AAA(Lys),Exon7:nt536C>G、AA179CCT(Pro)>CGT(Arg),Exon7:nt588A>G、AA196CCA(Pro)>CCG(Pro),推测基因型为JKb(222A)/JKb(536G);3)Intron5:3’剪切位点AG>AA,Exon7:nt499A>G,AA167ATG(Met)>GTG(Val),Exon7:nt588A>G、AA196CCA(Pro)>CCG(Pro),推测基因型为JKb(△6)/JKb(499G)。结论在番禺地区献血人群Jk(a-b-)表型查中发现的Exon7:nt499A>G和Exon7:nt536C>G2种突变为首次报道。更多还原

【Abstract】 Objective To study the distribution of Jk(a-b-) phenotype in the blood donors of Panyu district. Methods Negative samples were screened by U type 96 well microplate technology, and then confirmed by routine serologic testing. The Jk(a-b-) phenotypes were genotyped and the genomic DNA coding region covering 4-11 exons and their flanking region were expanded and sequenced. Results Ten Jk(a-b-) phenotypes were found out of 50034 donors from June 2004 to August 2006, with the frequency of 0.02%. Three kinds of mutation sequences were detected: 1) AG to AA in the 3’ splice site of intron 5; A to G at 588 site, and AA196CCA to CCG in exon 7. The genotype presumed to be JKb(△6)/ JKb(△6).2) C to A at 222 site of exon 5, and AA74AAC to AAA ; C to G at 536 site of exon 7, and AA179CCT to CGT; A to G at 588 site of exon 7,and AA196CCA to CCG. The genotype is presumed to be JKb(222A)/JKb(536G).3) AG to AA in the 3’ splice site of intron 5;A to G at 499 site of exon 7,and AA167ATG to GTG; A to G at 588 side of exon 7,and AA196CCA to CCG. The genotype is presumed to be JKb(△6)/JKb(499G). Conclusions Two novel mutations, A to G at 499 side of exon 7 and C to G at 536 site of exon 7, are first discovered.更多还原