Jk(a-b-)表型分子机理的初步研究

目的　研究Jk(a-b - )表型的分子机理。方法　在标准血清学鉴定的基础上 ,对Jk(a -b - )表型进行第 4～ 11外显子及部分内含子DNA扩增 ,PCR产物经割胶纯化后直接进行测序分析。结果　Jk(a -b - )表型在第 5内含子 3’端拼接接受位点G突变为A ;第 3内含子 3’端第 78位A→G ;第 8内含子 5’端第 84位C→T ;外显子第 5 88位A→G(第 7外显子内 ) ;第 838位G→A(第 9外显子内 )。其中第 5内含子 3’端拼接接受位点G突变为A导致转录后外显子 6的缺失。结论　第 5内含子 3’端拼接接受位点的碱基G突变为A可能是Jk(a -b - )表型的分子遗传机理之一。

Research on molecular genetic basis for Jk(a-b-) phenotype

Objective To investigate the molecular basis for Jk(a b ) phenotype.Methods Routine serologic testing for phenotype.Genomic DNA covering 4～11 exons and partial introns of JK gene was amplified by ploymerase chain reaction.The PCR products were excised and purified from agarose gels with a kit,then fragments were directly sequenced.Results G mutated to A in the 3'acceptor splice site of intron 5;A to G at 78 site from the 3'end of intron 3;C to T at 84 site from the 5'end of intron 8; A to G at 588 site of exons ( exon 7); G to A at 838 site of exons (exon 9).The splice site mutation (G→A) of intron 5 may cause the skipping of exon 6.Conclusion G to A mutation in the 3'acceptor splice site of intron 5 maybe one of the molecular basis for Jk(a-b-) phenotype