B抗原减弱表型的表型频率与ABO基因分析  

Analysis on the frequency of weak B phenotype and molecular genetics on ABO gene

作　　者：池泉[1] 张爱[1] 任本春[1] 

机构地区：[1]福建省血液中心,福建福州350004

出　　处：《检验医学》2013年第12期1128-1131,共4页Laboratory Medicine

基　　金：福建省自然科学基金资助项目(2007J0261)

摘　　要：目的对血清学表现为B抗原减弱的血液样本进行筛查和ABO基因分析,了解其分布特征和分子遗传学基础。方法筛查并收集B抗原减弱(与抗-B血清试管法凝集强度中等)的样本,采用血型血清学方法进行鉴定分析,采用直接测序的方法对ABO基因的第6、7外显子及第6内含子进行序列分析,对可追踪家庭进行家系分析。结果从241 952份样本中检出13例B抗原减弱表型,其中B型9例、AB型4例;所有样本的红细胞与抗-H反应均增强;其中2例可检出不规则抗-B;ABO基因型分别为A102/B w12(1例)、B101/B101(2例)、B101/O02(3例)、A102/B101(3例)、B101/O01(4例)。在1例基因型为B101/O01个体的家系成员(父亲)中检出相同表型。结论该类表型在B型人群中的频率约为1∶7 000;除1例样本的B等位基因存在278C>T突变(B w12)外,其余样本在第6、7外显子和第6内含子中均未检出突变;ABO基因酶催化活性区域编码序列以外的基因变异,可能是导致B抗原减弱的原因之一。Objective To study the frequency of weak B phenotype and analyze the molecular genetics on ABO gene, and to analyze the serological and genetic characteristics. Methods The samples with B phenotypes （ moderately agglutinate by anti-B） were identified, screened and collected by the serological techniques in routine ABO blood group. The sequences of exon 6 ,exon 7and intron 6 of ABO gene were analyzed by direct DNA sequencing. Pedigree study was performed in traceable family. Results A total of 13 weak B phenotypes were observed in 241 952 cases （9 cases of blood group B and 4 cases of blood group AB）. Enhanced agglutination with anti-H was observed in all the sample＇s red cell. The ABO genotypes of A102/Bwl2 ,B101/B101 ,B101/O02 ,A102/B101, B101/O01 were detected in 1,2,3,3 and 4 of the 13 cases. A same weak B phenotype was detected in a B101/O01 family （father） study. Conclusions The frequency of weak B phenotype in Fujian population with B blood group is about 1：7 000. A B allele with a nucleotide 278C 〉 T mutation （Bwl2 ） is detected, and no mutation is detected among the others for exon 6, exon 7 and intron 6. Variations outside the sequence of glycosyltransferase catalytic domain may be the factors for weak B phenotype.

关 键 词：B抗原减弱 B2亚型 ABO血型 ABO亚型 直接测序 

分 类 号：R446.1[医药卫生—诊断学]