1. 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.
- Author
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Akhavan-Niaki, Haleh, Banihashemi, Ali, Mostafazadeh, Amrollah, Kholghi Oskooei, Vahid, Azizi, Mandana, Youssefi Kamangar, Reza, and Elmi, Maryam Mitra
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GLOBIN genes , *POLYMERASE chain reaction , *ALPHA-Thalassemia , *ANEMIA , *GENETICS , *DNA primers , *GENE amplification , *PRENATAL diagnosis , *INTRAVENOUS therapy , *GENETIC mutation - Abstract
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. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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