The following beta-globin gene promoter mutations were not observed; -101 (C>T), -87(C>T), -30 (T>A), codon 15 (TTG>TGA), codon 27 (G>T) Knossos, and IVS-1-116 (G>C). In all, 5 of the 115 patients (4.3%) had an unidentified mutation. Conclusion: The present results ...
Frequency of beta-globin gene mutations in beta-thalassemia patients from east of Mazandaran. J Mazandaran Univ Med Sci. 2008; 18 (67):17–25.Hashemi Soteh MB, Akhavan Niaki H, Kowsarian M, Aliasgharian A, Banihashemi A. [Frequency of Beta-globin gene mutations in beta-thalassemia ...
Beta-globin gene mutations which alter normal globin RNA splicing have confirmed the necessity of invariant nucleotides GT at donor splice sites. Functional consequences of point mutations in the invariant AG acceptor splice site have not been determined. We have isolated and characterized a beta-globi...
Major Beta-Globin Gene Mutations in Eastern India and Their Associated Haplotypes 324 alleles of the β-globin gene from unrelated thalassaemia patients native to the eastern region of India (mainly from the state of West Bengal) were an... Bandyopadhyay A.,Bandyopadhyay S.,Chowdhury M.D.,.....
A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene pro- duces a variable thalassaemic phenotype. Br J Haematol 1991; 79:342-4.Hall GW, Franklin IM, Sura T, Thein SL 1991. A novel mutation (nonsense β127) in exon 3 of the β-globin gene produces a variable ...
Restriction site polymorphism showed that the mutation arose on her paternal chromosome. Direct sequencing of a polymerase chain reaction amplified DNA segment showed absence of the lesion in both alleles of her father's beta-globin gene and confirmed the spontaneous nature of this mutation....
A promoter mutation of the beta-globin gene (−101 C–>T) has an age-related expression pattern. Blood 1993; 81: 2818–2819. CAS PubMed Google Scholar Wainscoat JS, Kanavakis E, Wood WG, et al. Thalassaemia intermedia in Cyprus: the interaction of alpha and beta thalassaemia. ...
IVSII-666 of human beta-globin gene: a polymorphic marker linked to codon 8(-AA) mutation. 来自 NCBI 喜欢 0 阅读量: 49 作者: Akhavan-Niaki, Haleh, Seresti, Siamak Shafiezadeh, Asghari, Beheshteh, Banihashemi, Ali 摘要: AIMS: IVSII-666 (C-T) is one of the polymorphic sites ...
(The codon at which the mutation occurs designates the name of the mutation; there are 146 codons in human β -globin mRNA.) In vitro studies using the cloned β -39 gene have reproduced this effect in a heterologous transfection system and have suggested that the defect resides in ...
The people were detected the 17 common mutation genotypes of β-thalassemia genes by PCR and flow-through hybridization technology. The β-globin gene of unknown samples were analyzed with DNA sequencing. The detection results were analyzed by statistical methods. If both husband and wife are ...