Journal of clinical laboratory analysisCao M,Liu Z,Jia X, et al.Detection of a-globin gene deletions using denaturing high-performance liquid chromatography and multiplex ligation-dependent probe amplification.
Since the Iranian populaion is a mixture of different ethnic groups, frequency and distribution of globin mutations in various regions of the country need to be clarified. The aim of this study was to determine the common alpha globin gene deletions among individuals with hypochromic microcytic ...
In order to determine whether any heterogeneity exists in the human α-globin chain, i.e. whether the products of the duplicated genes are identical, we have determined the total sequence of 14 α-globin chains: seven of these were abnormal, while six were normal chains from the same ...
This defect has been characterized by DNA sequence analysis of cloned alpha-thalassaemia genes.doi:10.1038/286538a0Stuart H. OrkinAlan MichelsonNatureNatureOrkin SH, Michelson A. Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia. Nature. 1980 Jul 31; 286 (5772):538...
5). Clinically, this model is most similar to a trans-two alpha gene deletion, in which only one of the two copies of the alpha globin gene is lost. However, this genetic deletion only affects alpha globin expression in the endothelium. Endothelial-specific deletion was confirmed, with no ...
globingeneclusterhaplotypesshowedthatboththetype1andthetype2β-thalassemia-likedeterminantssegregateindependentlyoftheβ-globingenecomplex,indicatingabsenceoflinkagetothischromosomalregion.Furthermore,sequenceanalysisoftheHScoresofLocusControlRegionandofthegenescodingforthetranscriptionfactorsEKLFandNF-E2wasnormal.β-...
We describe the characterization of an alpha+-thalassaemia determinant as a result of a transition of G-->A of the donor splice consensus site sequence of the first intron of the alpha1-globin gene (alpha1IVS I-1). The mutation was found in combination with the South-East Asian alpha0-...
Conclusion: The - 3.7 deletion was found to be the most common cause of globin gene deletion in our samples. Multiplex PCR for 伪 gene deletion analysis is simple, rapid and sensitive.doi:10.1016/0022-0531(90)90002-2R. KianiShirazi
There are two alpha globin genes (HBA1 and HBA2) which produce proteins which contribute to haemoglobin. Patients normally have 4 copies of the HBA gene, two from each parent. Mutations in these genes can cause alpha thalassaemia (of varying severity) or result in no clinical abnormality (bei...
AN INITIATION CODON MUTATION IN THE |[alpha]|1 GLOBIN GENE OF A BLACK FAMILY WITH HbH DISEASEAN INITIATION CODON MUTATION IN THE |[alpha]|1 GLOBIN GENE OF A BLACK FAMILY WITH HbH DISEASEPediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases...