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临床输血与检验

临床输血与检验 ›› 2016, Vol. 18 ›› Issue (4): 319-322.DOI: 10.3969/j.issn.1671-2587.2016.04.005

• 临床输血研究 • 上一篇    下一篇

1例B3亚型的分子机制及家系调查

张韦, 栾希英   

  1. 264003 烟台,滨州医学院（张韦,栾希英）; 山东省滨州市中心血站质控科（张韦）
  • 收稿日期:2015-12-30 出版日期:2016-08-20 发布日期:2016-08-26
  • 通讯作者: 栾希英,女,教授,博士,（E-mail）xyluan@sohu.com。
  • 作者简介:张韦（1976-）,女,山东滨州人,主管技师,学士,主要从事输血质量控制和输血研究工作,（E-mail）zw760516@163.com。

Molecular Mechanism of B3 Subtype and the Family Investigation

ZHANG Wei, LUAN Xi-ying   

  1. Binzhou Medical College, Yantai 256613
  • Received:2015-12-30 Online:2016-08-20 Published:2016-08-26

PDF

935

被引次数

3

摘要： 目的分析B3亚型家系成员的血型血清学特点及分子机制。方法应用常规血型血清方法进行血型鉴定;采用PCR-SSP法进行ABO初步基因分型检测,并对ABO基因第6和第7外显子的核苷酸序列进行扩增、测序和分析。结果本家系中2人为A1B3亚型,血清中含有抗-B抗体;3人为B3亚型,血清中不含抗-B抗体。基因分析第7外显子上存在1054C>T突变,导致多肽链第352位精氨酸被色氨酸替换。结论基因点突变1054C>T是导致B3亚型的分子遗传基础,且在家系中能够稳定遗传,采用分子生物学技术和人源抗血清可正确鉴定B3亚型。

关键词: ABO血型系统, B3亚型, 基因型, 家系

Abstract: ObjectiveTo analyze the characteristics of blood group serology and molecular mechanism of B3 subtype family members. MethodsBy using conventional blood serum method to identify blood type; detected the ABO preliminary genotyping by PCR-SSP method and amplified, sequenced and analyzed the nucleotide sequence of the sixth and seventh exon of ABO genes. ResultsTwo people in the family are A1B3 isoforms, containing anti-B antibody in serum. Three are B3 isoforms without anti-B antibody in serum. Genetic analysis reveals that the seventh exon has 1054C>T mutations, which causes the consequence that the polypeptide chain 352 nd arginine is replaced by tryptophan substitutions. ConclusionsThe point mutation of 1054C>T gene causes the molecular genetic basis of B3 subtypes, and can be stably inherited in the family. The techniques of molecular biology and human antiserum can identify the B3 subgroup correctly.

Key words: ABO, blood, group, system, B3, subtype, Genotype, Family

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