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[应用反向点杂交法鉴定阿塞拜疆β地中海贫血患者β-珠蛋白基因(Hbβ)IVS1-5(G>C)突变]

[IDENTIFICATION OF MUTATION IVS1-5(G > C) OF THE β-HEMOGLOBIN GENE (Hbβ) BY RDBH-METHOD IN PATIENTS WITH β-THALASSEMIA IN AZERBAIJAN].

作者信息

Akbarova G

出版信息

Tsitol Genet. 2015 May-Jun;49(3):40-4.

Abstract

The hematological and molecular-genetics analyses of patients with suspected β-thalassemia were done by the RDBH StripAssay. The complete blood evaluation (HB, MCH, MCV, MCHC, RBC, Hct, HbA2, HbF), monitoring of serum iron and ferritin, molecular analysis--RDBH (Reverse Dot-Blot Hybridization StripAssay) were done. Two persons were carriers of the beta-thalassemic trait as β+ thalassemia minor IVS1-5(G > > C)/wt. Mutation IVS1-5 (G > C) in the compound with a mutation IVS1-110 (G > A) or mutation IVS1-6 (T > C) determines the development of β-thalassemia intermedia. RDBH-method is easy and economical method in molecular diagnosis of β-thalassemia, if hematological parameters are incorrect.

摘要

对疑似β地中海贫血患者进行血液学和分子遗传学分析采用RDBH条带分析法。进行了全血细胞评估(血红蛋白、平均红细胞血红蛋白含量、平均红细胞体积、平均红细胞血红蛋白浓度、红细胞计数、血细胞比容、血红蛋白A2、血红蛋白F)、血清铁和铁蛋白监测以及分子分析——RDBH(反向斑点杂交条带分析法)。有两人为β地中海贫血特征携带者,即轻度β+地中海贫血IVS1-5(G>>C)/野生型。IVS1-5(G>C)突变与IVS1-110(G>A)突变或IVS1-6(T>C)突变复合时,可导致中间型β地中海贫血的发生。如果血液学参数不正确,RDBH法是β地中海贫血分子诊断中简便且经济的方法。

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