Single-cell polymerase chain reaction-based pre-implantation genetic diagnosis using fragment analysis for β-thalassemia in an Indian couple with β-globin gene mutations
نویسندگان
چکیده
منابع مشابه
β-Globin chain abnormalities with coexisting α-thalassemia mutations
INTRODUCTION The frequency of hemoglobinopathies is still high in Adana, the biggest city of the Cukurova Region that is located in the southern part of Turkey. Our aim was to identify the concomitant mutations in α- and β-globin genes which lead to complex hemoglobinopathies and to establish an appropriate plan of action for each subject, particularly when prenatal diagnosis is necessary. MA...
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Abstract β-thalassemia major (β –TM) is the most common thalassemia severe phenotype among Iranians. In recent years, molecular understanding of pathogenesis of β –TM has provided a great opportunity regarding diagnostic issues. Creating comprehensive molecular databases provides highly sensitive diagnostic tools for β –TM and effective prenatal diagno...
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β-thalassemia is a syndrome characterized by a reduction or complete absence of the β-globin chain. More than 25 mutations within and flanking the β-globin gene have been identified as the cause of this syndrome in Thailand. To date, several PCRbased techniques have been employed to rapidly identify the types of β-thalassemia mutations. The recently introduced MS-PCR is among those techniques u...
متن کاملPrimer-introduced restriction analysis polymerase chain reaction method for non-invasive prenatal testing of β-thalassemia.
We have developed a new method for non-invasive prenatal testing (NIPT) of paternally inherited fetal mutants for β-thalassemia (β-thal). Specially designed primer-introduced restriction analysis-polymerase chain reaction (PIRA-PCR) were used to detect four major mutations [IVS-II-654, HBB: c.316-197C > T; codon 17 (A > T), HBB: c.52A > T; -28 (A > G), HBB: c.-78A > G and codons 41/42 (-TTCT), ...
متن کاملPrevalence of Hemoglobin Mutations and Hemoglobinopathies in Masjed Soleiman County, Southeastern Iran
ABSTRACT Background and Objectives: Hemoglobinopathies are characterized by defects in the synthesis of globin chains of hemoglobin (Hb). The purpose of the present study was to evaluate mutations associated with thalassemia and other hemoglobinopathies in Masjed Soleiman County, Iran. Methods: This descriptive study was carried out on 456 individuals suspected of ha...
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ژورنال
عنوان ژورنال: Journal of Human Reproductive Sciences
سال: 2012
ISSN: 0974-1208
DOI: 10.4103/0974-1208.106343