A promoter mutation of the beta-globin gene (-101 C-->T) has an age-related expression pattern.
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منابع مشابه
Analysis of Methylation Status in Promoter Region of Γ- Globin Gene in Carrier and Affected Β-Thalassemia Patients with High Level of Fetal Hemoglobin in Comparison with Normal Individuals
Introduction: Among the factors that may be associated with the re-expression gamma-globin in adults is the methylation pattern of the promoter region. The study aimed to determine the association between promoter methylation pattern of the gamma-globin gene in the carriers and affected beta-thalassemia individuals and its expression levels. Methods: This study has been done as a case control-...
متن کاملپراکندگی موتاسیون‌های ژن بتاگلوبین در مزدوجین ناقل شهرستان بابلسر طی سال‌های 90-1380
Background and purpose: Beta-thalassemia is an autosomal recessive disease characterized by reduction or complete absence of beta-globin gene expression. This study aimed to find out and determine the spectrum of beta-globin gene mutations and especially rare mutation in beta-carrier couple in Babolsar, north region of Iran. This is very important in perinatal diagnosis of thalassemia. Materia...
متن کاملIdentification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient
Beta thalassemia is the most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...
متن کاملTransient Expression Assay of Aγ-588 (A/G) Mutations in the K562 Cell Line
Background: In the previous study, we have shown that the presence of A allele at position -588 in Aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in Aγ-globin gene expression to ameliorate the severity of the ...
متن کاملSilent thalassemias: genotypes and phenotypes.
BACKGROUND AND OBJECTIVE Current application of molecular biology techniques to the study of the DNA of globin genes has confirmed the existence of silent alpha and beta thalassemias; which had already been reported on the basis of red blood cell parameters and family studies. The present work was aimed at analyzing all the aspects of the phenotype of the most common varieties of silent thalass...
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عنوان ژورنال:
- Blood
دوره 81 10 شماره
صفحات -
تاریخ انتشار 1993