One single-tube PCR assay to detect both CD17 (A>T) and IVS-II nt-654 (C>T) homozygous mutations of β-thalassemia
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چکیده
منابع مشابه
Tetra-Primer ARMS PCR Optimization for Detection of IVS-II-I (G-A) and FSC 8/9 InsG Mutations in β-Thalassemia Major Patients in Isfahan Population
BACKGROUND β-thalassemia, a monogenic autosomal recessive disorder, is prevalent in Middle East, particularly in Iran. In Iran, near to 20 mutations in the β-globin gene are introduced as common mutations with varying incidence frequencies in each city. Therefore, detection and screening for couples at high risk can help to solve the problems of this disease. In this study, optimized genotyping...
متن کاملThe studies of hemoglobinopathies and thalassemia in China--the experiences in Shanghai Institute of Medical Genetics.
BACKGROUND In the past two decades, a large-scale survey of hemoglobinopathies and thalassemia was carried out in mainland China, involving nearly one million people in 28 provinces. The incidences of hemoglobin (Hb) variants, alpha-thalassemia and beta-thalassemia were 0.33%, 2.64% and 0.66%, respectively. The chemical structural analysis identified 67 Hb variants. Among them, 20 are new varia...
متن کاملMOLECULAR STUDIES ON THE DIST RIBUTION OF β - THALASSEMIA IN IRAN: THE BASIS FOR PRENATAL DIAGNOSIS
By application of modern recombinant DNA technology, especially the polymerase chain reaction (PCR)/dot-blot hybridization techniques, we have investigated the molecular basis of β-thalassemia from four different regions of Iran: central, south-east, south and north. In this study, the DNA samples were isolated from patients and for the identification of the mutations, the 6 oligonucleotide...
متن کاملtetra-primer arms pcr optimization for detection of ivs-ii-i (g-a) and fsc 8/9 insg mutations in β-thalassemia major patients in isfahan population.
β-thalassemia, a monogenic autosomal recessive disorder, is prevalent in middle east, particularly in iran. in iran, near to 20 mutations in the β-globin gene are introduced as common mutations with varying incidence frequencies in each city. therefore, detection and screening for couples at high risk can help to solve the problems of this disease. in this study, optimized genotyping of two com...
متن کاملβ-thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report
In the present study, a rare familial case of severe thalassemia with compound spontaneous mutations is reported. A 2.5‑year‑old boy, who suffered from severe anemia with yellowish skin, enlarged liver and spleen, was provided with a blood transfusion every 20 days to maintain hemoglobin levels between 90 and 100 g/l. Sanger sequencing combined with reverse transcription‑quantitative polymerase...
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ژورنال
عنوان ژورنال: TURKISH JOURNAL OF MEDICAL SCIENCES
سال: 2013
ISSN: 1300-0144,1303-6165
DOI: 10.3906/sag-1209-60