Simultaneous Detection of Hb Constant Spring (α142, TAA>CAA, α2) and The α2 IVS-I Donor Site (-TGAGG) Deletion by a Simple Polymerase Chain Reaction-Based Method in Iran
Simultaneous Detection of Hb Constant Spring (α142, TAA>CAA, α2) and The α2 IVS-I Donor Site (-TGAGG) Deletion by a Simple Polymerase Chain Reaction-Based Method in Iran
نویسندگان: هاله اخوان نیاکی , امراله مصطفی زاده , مریم میترا علمی , علی بنی هاشمی
نشریه: Hemoglobin , , - ,
کد مقاله |
1287 |
عنوان فارسی مقاله |
Simultaneous Detection of Hb Constant Spring (α142, TAA>CAA, α2) and The α2 IVS-I Donor Site (-TGAGG) Deletion by a Simple Polymerase Chain Reaction-Based Method in Iran |
عنوان لاتین مقاله |
Simultaneous Detection of Hb Constant Spring (α142, TAA>CAA, α2) and The α2 IVS-I Donor Site (-TGAGG) Deletion by a Simple Polymerase Chain Reaction-Based Method in Iran |
نوع مقاله |
تحقیقی |
IF |
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عنوان نشریه |
Hemoglobin
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شماره مجله |
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دوره مجله |
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صفحه شروع و پایان |
- |
نمایه نامه |
ISI |
سال انتشار شمسی |
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سال انتشار میلادی |
2012 |
DOI |
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آدرس لینک مقاله/ همایش در شبکه اینترنت |
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Hb Constant Spring (Hb CS, codon 142, TAA>CAA, α2) (HBA2:c.427T>C) and α2 IVS-I donor site (GAGGTGAGG>GAGG - - - - -) (HBA2:c.95+2_95+6delTGAGG) are nondeletional α-thalassemia (α-thal) mutations found all over the world. Identification of α-thal genotypes in at-risk couples for severe anemia or in highly heterogeneous populations requires rapid, accurate and cost-effective genotyping methods. In this study, a pair of primers were used to specifically amplify an 883 bp fragment from the α2-globin gene in order to simultaneously identify these two mutations by a PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method. We determined the genotypic frequencies of Hb CS and the α2 IVS-I donor site mutations after amplification and enzymatic digestion with Tru9I in 238 northern Iranian samples referred for α-thal testing. Hb CS and the α2 IVS-I donor site mutations accounted for 21 (8.8%) and 29 (12.2%) of the nondeletional cases. This genotyping assay has proven to be a rapid, reliable and useful diagnostic tool for simultaneous detection of these two anomalies for genetic counseling or further prenatal diagnosis |
نام فایل |
تاریخ درج فایل |
اندازه فایل |
دانلود |