一例B(A)血型患者及其家系的血型血清学和分子生物学研究

A case report of B(A)and its family survey with serology and molecular biology investigation

目的通过1例B(A)血型的先证者及其家系成员血型血清学和分子生物学检测,研究B(A)血型的特点和家系遗传规律。方法应用试管法对北京市红十字血液中心的1例先证者及其家系成员进行ABO血型正反定型,确认其ABO表型;采用实时荧光定量PCR技术对家系成员进行ABO血型基因分型,通过基因测序方法对所有成员进行ABO第6、7外显子测序,确认其基因型。结果家系成员ABO表型分别为:先证者B(A)、父亲AB亚型、母亲O型、妻子O型、女儿B(A)、儿子O型;家系成员初步基因分型结果为:先证者BO2、父亲A1B、母亲O1O2、妻子O1O1、女儿BO1、儿子O1O2;家系成员基因型分别为:先证者B(A)02O02、父亲A102B(A)02、母亲O01O02型、妻子O01O01型、女儿B(A)02O01、儿子O01O02。结论B(A)血型属于B亚型一种,遗传呈现稳定的AB型顺式遗传方式,但若两条等位基因中,一条为B(A),另一条为A型等位基因时,由于竞争抑制关系,血型血清学将呈现AB亚型的特点。

Objective To explore the serological characteristics of B(A)blood group and the genetic rule through the family survey of a case of B(A)blood group proband.Methods Tube test method was used to confirm ABO phenotype of proband and its family members.ABO blood group was preliminarily genotyped by real-time PCR technology,and ABO exon6 and 7 were sequenced and analyzed by gene sequencing method to confirm their genotypes.Results As for the ABO phenotypes,proband were B(A),father were subtypes of AB,mother were O,wife were O,daughter were B(A),son were O.Preliminary genotyping results of all family members were:proband BO2,father A1B,mother O1O2,wife O1O1,daughter BO1,son O1O2.The genotypes of all family members were:proband B(A)02O02,father A102B(A)02,mother O01O02,wife O01O01,daughter B(A)02O01,son O01O02.Conclusions The group of B(A)belongs to the subtype of B.[It is easy to identify as type subtypes of A B,its genetic stable by AB cis genetic way,but if the two alleles of A to B(A),type A allele for another,due to competitive inhibition,serological subtype will present subtypes of AB blood type.]