中国壮族人群Lutheran缺失表型的EKLF/KLF1基因多态性研究

doi:10.3969/j.issn.1673-8640.2013.12.015

检验医学 ›› 2013, Vol. 28 ›› Issue (12): 1124-1127.DOI: 10.3969/j.issn.1673-8640.2013.12.015

中国壮族人群Lutheran缺失表型的EKLF/KLF1基因多态性研究

王晨¹，焦伟²，黎海澜²，叶璐夷¹，朱自严¹

1.上海市血液中心，上海 200051；2.广西壮族自治区人民医院，广西南宁 530021

收稿日期:2013-05-14 出版日期:2013-12-01 发布日期:2013-12-20
通讯作者: 朱自严，联系电话:021-62700547。
作者简介:王晨，男，1977年生，学士，助理研究员，主要研究方向为免疫血液学。
基金资助:
广西科学研究与技术开发计划课题(桂科攻0993003B-26)；卫生行业科研专项(201002005)；上海市公共卫生重点学科建设项目(12GWZX0201)；上海市卫生局科研课题资助(2010027)

Research on the polymorphism of EKLF/KLF1 gene in Lutheran deficient phenotype among Chinese Zhuang population

WANG Chen¹,JIAO Wei²,LI Hailan²,YE Luyi¹, ZHU Ziyan¹.

1. Shanghai Blood Center,Shanghai 200051, China；2.The People′s Hospital of Guangxi Zhuang Autonomous Region, Guangxi Nanning 530021, China

Received:2013-05-14 Online:2013-12-01 Published:2013-12-20

摘要/Abstract

摘要：

目的　针对中国壮族人群中的Lu(a-b-)表型，检测其相关的EKLF/KLF1调控基因，以揭示其分子机理和遗传背景。方法　对4527名壮族人群中筛查出的22名Lu(b-)表型的先证者进行家系调查，血清学筛查家系中Lu(a-b-)个体，扩增其EKLF/KLF1调控基因的3个外显子，测序分析其遗传背景。结果　在22个家系中包括先证者共检测出Lu(a-b-)表型57名。其中19个家系共51名个体的EKLF/KLF1基因中均发现同样的519-525dupCGGCGCC杂合突变;其余3个家系Lu(a-b-)表型的EKLF/KLF1基因中均发现895C>G杂合突变。结论　中国壮族Lu(a-b-)血型的分子背景可能与EKLF/KLF1基因的特异性杂合突变密切相关，且绝大多数为519-525dupCGGCGCC的杂合突变类型。

关键词: 稀有血型, Lutheran血型, EKLF/KLF1基因

Abstract:

Objective　 To reveal the molecule and genetic background of EKLF/KLF1 gene in Lu(a-b-) phenotype among Chinese Zhuang population. Methods　 A total of 22 probands of Lu (b-) phenotype were detected among 4 527 Chinese Zhuang population donors. The Lu (a-b-) individuals of their family members were determined by serologic methods. In addition, 3 exons of EKLF/KLF1 gene were amplified and sequenced. The genetic background was analyzed by sequencing. Results 　Among the 22 probands, 57 cases with Lu (a-b-) phenotype were determined. A total of 51 individuals from 19 pedigrees showed EKLF/KLF1 519-525dupCGGCGCC heterozygous mutation. The other 3 pedigrees′ Lu (a-b-) phenotype had EKLF/KLF1 (895C>G) heterozygous mutation. Conclusions 　The Lu (a-b-) in Chinese Zhuang population might be caused by specific heterozygous mutations in EKLF/KLF1 gene, especially the EKLF/KLF1 519-525dupCGGCGCC heterozygous mutation.

Key words: Rare blood type, Lutheran blood type, EKLF/KLF1 gene

中图分类号:

Q503

王晨，焦伟，黎海澜，叶璐夷，朱自严. 中国壮族人群Lutheran缺失表型的EKLF/KLF1基因多态性研究[J]. 检验医学, 2013, 28(12): 1124-1127.

WANG Chen,JIAO Wei,LI Hailan,YE Luyi, ZHU Ziyan.. Research on the polymorphism of EKLF/KLF1 gene in Lutheran deficient phenotype among Chinese Zhuang population[J]. , 2013, 28(12): 1124-1127.

[1]	纪勇平, 赵龙友, 庄杰, 周斌. 浙江丽水地区畲族献血人群稀有血型调查[J]. 检验医学, 2014, 29(2): 197-198.
[2]	王晨;陈和平;岳丹琪;朱自严. 上海地区人群中部分稀有血型筛选[J]. 检验医学, 2007, 22(05): 583-584.

中国壮族人群Lutheran缺失表型的EKLF/KLF1基因多态性研究

Research on the polymorphism of EKLF/KLF1 gene in Lutheran deficient phenotype among Chinese Zhuang population

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