罕见开米拉A_3B_3血型的分子生物学研究

目的一例ABO表型鉴定困难的个体及其家系的分子遗传背景的研究。方法用常规血清血型方法,对其ABO血型分型;PCR-SSP法进行基因分型;同时通过ABO基因直接测序及克隆测序、HLA分型、以及15个常染色体位点短串联重复序列检测对该研究对象进行家系研究。结果患者血清学分型定为A3B3型,其ABO基因分型、序列测定、HLA-B、DR基因分型、和STR-PCR特异性检测的vWA和D8S1179位点均有两个以上的单倍体存在。结论该研究对象认定是一例罕见的开米拉血型,清晰提示此罕见血型的分子基础,有助于深入认识此种分子遗传的方式。

Molecular study on a rare chimeric blood group

Objective To study the genetic status of a rare chimerical individual with a complicated ABO phenotype and his family.Methods The blood samples of the child,his parents and his grandfather,were collected separately.Forward and reverse ABO typing was performed by standard hemagglutination tube tests.And the gene typing was performed by the polymerase chain reaction with sequence specific primers（PCR-SSP）.Meanwhile,the study of the genetic status of the family was performed by clone sequencing on ABO gene,HLA genotypes,and multiplex amplified of 16 short-tandem-repeat（STR） markers addition to the amelogenin locus.Results The child＇s RBCs were typed as A3B3.The results of ABO,HLA-B,DRB1 gene typing show that more than two haplotypes located within the loci D8S1179 and vWA of the child.Conclusions The results indicate that the child is a rare case of blood group chimerism,and its molecular background was investigated,which may be helpful to further elucidate the specific genetic status.