印度北部各邦β地中海贫血突变谱：一种具有两个顺式突变的β地中海贫血特征

Spectrum of beta-thalassemia mutations in North Indian states: a beta-thalassemia trait with two mutations in cis.

作者信息

Chakrabarti Partha, Gupta Ramkrishna, Mishra Ashutosh, Rai Madhukar, Singh Vijay Pratap, Dash Debabrata

机构信息

Department of Biochemistry, Institute of Medical Sciences, Banaras Hindu University, Varanasi-221005, U.P., India.

出版信息

Clin Biochem. 2005 Jun;38(6):576-8. doi: 10.1016/j.clinbiochem.2005.03.002.

DOI:10.1016/j.clinbiochem.2005.03.002

PMID:15885239

Abstract

OBJECTIVES

To study the prevalence of beta-thalassemia mutations in two North Indian states.

DESIGN AND METHODS

Mutation(s) were analyzed in 62 patients using 10 sets of allele-specific primers.

RESULTS

Four mutations [IVS1 nt5 (G --> C), F.S 8/9 (+G), F.S 41/42 (-TCTT) and del 619 bp] were found to constitute 94.1% of the total alleles studied. Prevalence of IVS1 nt5 (G --> C) was the highest, closely followed by F.S 8/9 (+G). The latter was thus unusually high and not consistent with earlier reports. Two mutations in cis were detected in one carrier of the thalassemia trait and in his father, thus signifying the possibility of vertical transmission of mutations in a single beta-globin allele.

CONCLUSIONS

F.S 8/9 (+G), as well as IVS1 nt5 (G --> C), are the major mutations in Indian states; however, the possibility of multiple mutations in cis in a fetus with the thalassemia trait has to be considered in a prenatal screening program.

摘要

目的

研究印度北部两个邦β地中海贫血突变的患病率。

设计与方法

使用10组等位基因特异性引物对62例患者的突变进行分析。

结果

发现四种突变[IVS1 nt5（G→C）、F.S 8/9（+G）、F.S 41/42（-TCTT）和缺失619 bp]占所研究总等位基因的94.1%。IVS1 nt5（G→C）的患病率最高，紧随其后的是F.S 8/9（+G）。后者异常高，与早期报告不一致。在一名地中海贫血特征携带者及其父亲中检测到两个顺式突变，这表明单个β珠蛋白等位基因突变垂直传播的可能性。