检验医学 ›› 2013, Vol. 28 ›› Issue (12): 1128-1131.DOI: 10.3969/j.issn.1673-8640.2013.12.016

• 基础研究.论著 • 上一篇    下一篇

B抗原减弱表型的表型频率与ABO基因分析

池泉,张爱,任本春   

  1. 福建省血液中心,福建 福州 350004
  • 收稿日期:2013-09-30 出版日期:2013-12-01 发布日期:2013-12-20
  • 作者简介:池泉,男,1973年生,硕士,副主任技师,主要研究方向为输血医学。
  • 基金资助:

    福建省自然科学基金资助项目(2007J0261)

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

CHI Quan,ZHANG Ai,REN Benchun.   

  1. Fujian Blood Center, Fujian Fuzhou 350004, China
  • Received:2013-09-30 Online:2013-12-01 Published:2013-12-20

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241952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/Bw12(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∶7000;除1例样本的B等位基因存在278C>T突变(Bw12)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。

关键词: B抗原减弱, B2亚型, ABO血型, ABO亚型, 直接测序

Abstract:

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/Bw12,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 (Bw12) 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.

Key words: Weak B, B2 subgroup, ABO blood group, ABO subgroup, Direct DNA sequencing

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