[1]崔文燕),王钰菁),邹 纬),等.α1,3-D-半乳糖基转移酶基因425C→T突变导致B3亚型分析[J].郑州大学学报(医学版),2018,(05):655-658.[doi:10.13705/j.issn.1671-6825.2017.12.095]
 CUI Wenyan),WANG Yujing),ZOU Wei),et al.425C→T mutation of α1,3-D-galactose transferase gene responsible for B3 subtype[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2018,(05):655-658.[doi:10.13705/j.issn.1671-6825.2017.12.095]
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α1,3-D-半乳糖基转移酶基因425C→T突变导致B3亚型分析()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2018年05期
页码:
655-658
栏目:
应用研究
出版日期:
2018-09-20

文章信息/Info

Title:
425C→T mutation of α1,3-D-galactose transferase gene responsible for B3 subtype
作者:
崔文燕1)王钰菁2)邹 纬2)王学锋2)蔡晓红2)
1)郑州大学第二附属医院输血科 郑州 450014;2)上海交通大学医学院附属瑞金医院输血科 上海 200025
Author(s):
CUI Wenyan1) WANG Yujing2) ZOU Wei2) WANG Xuefeng2) CAI Xiaohong2)
1)Department of Blood Transfusion, the Second Affiliated Hospital, Zhengzhou University,Zhengzhou 450014;2)Department of Blood Transfusion, the Affiliated Ruijin Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200025
关键词:
ABO血型 B3亚型 基因突变 α13-D-半乳糖基转移酶
Keywords:
ABO subgroup B3 subtype gene mutation α13-D-galactose transferase
分类号:
R457.1
DOI:
10.13705/j.issn.1671-6825.2017.12.095
摘要:
目的:探讨B3亚型及其家系成员的血型血清学特点及分子机制。方法:对B3亚型及其家系成员进行ABO血型血清学定型,血浆α1,3-D-半乳糖基转移酶活性测定,ABO基因第6、7外显子及其侧翼序列的PCR扩增,基因测序和克隆分析。结果:先证者血型血清学鉴定ABO血型为B3亚型,血浆中α1,3-D-半乳糖基转移酶活性<1,该家系中2份标本ABO基因序列与标准序列相比,在第7外显子存在c.425C→T的杂合突变,致α1,3-D-半乳糖基转移酶的第142位氨基酸由甲硫氨酸替换为苏氨酸,先证者ABO基因型为B305/O102,且能在家系中稳定遗传。结论:基因位点突变425C→T是导致B3亚型的分子遗传基础,DNA 测序能够阐述 ABO 血型亚型的分子机制及其稳定遗传特性。
Abstract:
Aim: To explore the characteristics of blood group serology and molecular mechanism of B3 subtype family members.Methods: The ABO blood group serological test, the activity determination of α1,3-D-galactose transferase in plasma,as well as PCR amplification, gene sequencing and cloning analysis in 6 and 7 exon of ABO genes and flanking sequence were carried out.Results: B3 subgroup was serologically identified, and the α1,3-D-galactose transferase activity was lower than 1 in plasma of the proband.Compared with standard sequence,there was a single mutation of C→T was identified at 425 position of exon 7 in the line of the ABO gene sequence of 2 specimens,and the 142 amino acid of α1,3-D-galactose aminotransferase,methionine,was replaced by threonine.The ABO genotype could be identified as B305/O102 and stable inherited in the family system.Conclusion: Gene point mutation 425C→T is the molecular genetic basis that causes B3 subtype. DNA sequencing could explain the molecular mechanism of ABO blood type subtype and its stable genetic characteristics.

参考文献/References:

[1] 刘晓华,韩斌,乔显森,等.Bw03血型血清学及基因型分析:附5例报告[J].中国输血杂志,2014,27(6):616
[2] 池泉,张爱,任本春.福州地区无偿献血人群ABO亚型分布与分子遗传学分析[J].中国输血杂志,2013,26(11):1105
[3] 陈琳,于晓丽,林乾飞,等.基因测序鉴定CisAB/B血型2例[J].临床输血与检验,2015,17(6):481
[4] 朱祥明,杨通汉,姚富柱,等.基因分型技术应用于疑难ABO血型的分型[J].临床输血与检验,2015,17(6):554
[5] CAI XH,JIN S,LIU X,et al.Molecular genetic analysis for the Bx subgroup revealing two novel alleles in the ABO gene[J].Transfusion,2008,48(11):2442
[6] 李勇,马学严.实用血液免疫学血型理论和实验技术[M].北京:科学出版社,2006.
[7] 林甲进,朱碎永.A2B亚型分子机制研究及其家系分析[J].中华检验医学杂志,2013,36(3):261
[8] 刘伟,李代红,刘纯.Bx亚型1例的分子生物学鉴定[J].中南大学学报(医学版),2011,36(12):1213
[9] DANIELS G.Human blood groups[M].3rd ed.Oxford: Wiley-Blackwell,2013.
[10]PATNAIK SK,HELMBERG W, BLUMENFELD OO.BGMUT:NCBI dbRBC database of allelic variations of genes encoding antigens of blood group systems[J].Nucleic Acids Res,2012,40(Database issue):D1023
[11]许先国,洪小珍,刘瑛,等.一种新的B3变异型相关的B糖基转移酶基因M142T突变研究[J].中华医学遗传学杂志,2009,26(3):254
[12]李归冀,章旭.ABO变异型B305血型基因亚型的鉴定及序列分析[J].中国实验血液学杂志,2016,24(5):1563
[13]吕杭军,洪小珍,应燕玲,等.ABO血型新等位基因Ael08的分子生物学研究[J].中国输血杂志,2011,24(8):676
[14]向东.ABO亚型的检测[J].中国输血杂志,2010,23(8):577

备注/Memo

备注/Memo:
【基金项目】上海市公共卫生重点学科建设项目(15GWZK0501); 上海市自然科学基金资助项目(17ZR1417000)
【作者简介】蔡晓红,通信作者,女,1980年1月生,博士,副主任技师,研究方向:临床输血与血型分子生物学,E-mail:cxh8407@126.com
更新日期/Last Update: 2018-09-20