埃及东北部β地中海贫血突变的反向杂交条带分析法检测
Reverse hybridization StripAssay detection of beta-thalassemia mutations in northeast Egypt.
作者信息
Soliman Othman E, Yahia Sohier, Shouma Amany, Shafiek Hala K, Fouda Ashraf E, Azzam Hanan, Abousamra Nashwa K, Mahfouz Rabab, Goda Enas F, El-Sharawy Solafa A
机构信息
Faculty of Medicine, Mansoura University, Mansoura, Egypt.
出版信息
Hematology. 2010 Jun;15(3):182-6. doi: 10.1179/102453310X12583347010214.
AIM
beta-Thalassemias are widely distributed in Mediterranean and Middle Eastern countries. Reverse hybridization StripAssay method is reported to be rapid, simple, reproducible and less expensive. The aim of this study is to evaluate reverse hybridization StripAssay method for detection of beta-thalassemia mutations in Egyptian children.
SUBJECTS AND METHODS
Forty children with beta-thalassemia major with mean age of 10.33+/-4.75 years were recruited consecutively from outpatient Hematology Clinic of Mansoura University Children's Hospital. Mutation analysis was performed by the beta-Globin StripAssay MED.
RESULTS
The most frequent mutant alleles detected were; IVS 1.110, IVS 1.1 and IVS 1.6 accounting for 33.75, 27.5 and 18.75% respectively. The detection rate of the used method in our population was 90%.
CONCLUSION
beta-globin StripAssay is a fast, easy-to-perform and reliable method for genetic screening of beta-thalassemia patients in Egypt. IVS 1.110, IVS 1.1 and IVS 1.6 are the most frequent mutant alleles with poor phenotype/genotype correlation.
目的
β地中海贫血在地中海和中东国家广泛分布。据报道，反向杂交条带分析法快速、简便、可重复且成本较低。本研究旨在评估反向杂交条带分析法在检测埃及儿童β地中海贫血突变中的应用。
研究对象与方法
从曼苏拉大学儿童医院门诊血液科连续招募40例重型β地中海贫血患儿，平均年龄为10.33±4.75岁。采用β-珠蛋白条带分析法MED进行突变分析。
结果
检测到的最常见突变等位基因是IVS 1.110、IVS 1.1和IVS 1.6，分别占33.75%、27.5%和18.75%。该方法在我们研究人群中的检测率为90%。
结论
β-珠蛋白条带分析法是埃及β地中海贫血患者基因筛查的一种快速、易于操作且可靠的方法。IVS 1.110、IVS 1.1和IVS 1.6是最常见的突变等位基因，其表型/基因型相关性较差。
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