Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE. Hum Mutat 2004;24 (4):338-49.Lacerra G, Fiorito M, Musollino G, Di Noce F, Esposito M, Nigro V, et al.
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 ...
Nucleotide sequence analysis of a recombinant cDNA for a duck alpha-globin gene indicates a gene with novel features and evolutionary history. The duck alpha-globin double-stranded cDNA, treated with S1 nuclease and tailed with poly(dC), was inserted into the Pst I restriction endonuclease site ...
Sequencing of the abnormally spliced mRNA product revealed the presence of a cryptic splice site in exon 1 of the alpha1-globin gene. No normally spliced alpha1mRNA was detected. The abnormally spliced mRNA product from the alpha1-gene carrying the mutation does not lead to functional protein ...
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 ...
Results: DNA fromd thalassemia carriers was tested for the presence of different types of globin gene deletion (s). The - 3.7 and - 4.2 single gene deletions, and the Mediterranean (-- MED and - 20.5) double gene deletions were found in some samples. Conclusion: The - 3.7 deletion was ...
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...
globinthalassemiageneduplicationsbetaintact LettertotheEditorAlphaglobingeneduplicationsinbetathalassemiapatientswithintactbetaglobingeneTotheEditor,Inapreviousstudy,wereportedthelargestseriessofardescribedofsubjectsfrom11unrelatedItalianfamiliescarryingaβ-thalasse-mia-likedeterminantnotlinkedtotheβ-cluster[1].Theclinical...
A novel α-globin gene arrangement in man We report the isolation of a cluster of four α-like globin genes from a bacteriophage λ library of human DNA ( Lawn et al., 1978). Analysis of the cloned DNA confirms the linkage arrangement of the two adult α-globin genes (α1 and α.....
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 ...