Matches in SemOpenAlex for { <https://semopenalex.org/work/W1497281287> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W1497281287 endingPage "73" @default.
- W1497281287 startingPage "70" @default.
- W1497281287 abstract "Background: Approximately 180 mutations have been described in β-thalassemia worldwide with specific spectrum in each ethnic population. This study determines the spectrum and the frequency of β-thalassemia mutations in patients with β-thalassemia trait and sickle cell-β-thalassemia. Methods: Fifteen compound heterozygous sickle cell thalassemia (SCT) and 23 β-thalassemia trait patients were studied using reverse dot blot, denaturing gradient gel electrophoresis and direct genomic sequencing. Results: We detected distinct β-thalassemia alleles in 15 compound heterozygous of SCT and 23 β-thalassemia trait patients. The most common mutation was IVSII-1(G®A), found in 15 of the 38 thalassemia chromosomes. IVSII.1 (G→A) mutation is a single nucleotide change of G to A at intervening sequence 2 position 1 of β-globin gene, detected in 11 out of 23 chromosomes in A/β-thalassemic patients and in four out of 15 chromosomes of SCT patients. This mutation constituted about 39% of the mutations in both groups. The -25bp 3 IVSI, deletion of 25 base pairs from 3' end of intervening sequence 1 of β-globin gene, was found to be the second prevalent mutation among all chromosomes. Conclusion: Defining thalassemia mutations are necessary to establish prenatal diagnosis programs leading to lower medical cost. Amongst 10 different types of mutation detected in β-thalassemic patients from South of Iran, two mutations of IVSII-1(G®A) and -25bp 3 IVSI were the most predominant β-thalassemic alleles. Iran J Med Sci 2006; 31(2): 70-73. Keywords ● β-thalassemia ● mutations ● sickle cell ● heterogenous ● Iran" @default.
- W1497281287 created "2016-06-24" @default.
- W1497281287 creator A5001576101 @default.
- W1497281287 creator A5020184656 @default.
- W1497281287 creator A5027290711 @default.
- W1497281287 creator A5056789730 @default.
- W1497281287 creator A5059214108 @default.
- W1497281287 creator A5062186392 @default.
- W1497281287 creator A5085301971 @default.
- W1497281287 date "2006-06-01" @default.
- W1497281287 modified "2023-09-23" @default.
- W1497281287 title "Thalassemic Mutations in Southern Iran" @default.
- W1497281287 cites W1975631945 @default.
- W1497281287 cites W1979115501 @default.
- W1497281287 cites W2015177502 @default.
- W1497281287 cites W2063264170 @default.
- W1497281287 cites W2096598195 @default.
- W1497281287 cites W2129554598 @default.
- W1497281287 cites W2133202269 @default.
- W1497281287 cites W2138270253 @default.
- W1497281287 cites W2168771891 @default.
- W1497281287 cites W2188662422 @default.
- W1497281287 cites W2275651312 @default.
- W1497281287 cites W289348041 @default.
- W1497281287 cites W63041568 @default.
- W1497281287 cites W95867504 @default.
- W1497281287 hasPublicationYear "2006" @default.
- W1497281287 type Work @default.
- W1497281287 sameAs 1497281287 @default.
- W1497281287 citedByCount "2" @default.
- W1497281287 crossrefType "journal-article" @default.
- W1497281287 hasAuthorship W1497281287A5001576101 @default.
- W1497281287 hasAuthorship W1497281287A5020184656 @default.
- W1497281287 hasAuthorship W1497281287A5027290711 @default.
- W1497281287 hasAuthorship W1497281287A5056789730 @default.
- W1497281287 hasAuthorship W1497281287A5059214108 @default.
- W1497281287 hasAuthorship W1497281287A5062186392 @default.
- W1497281287 hasAuthorship W1497281287A5085301971 @default.
- W1497281287 hasConcept C104317684 @default.
- W1497281287 hasConcept C12125453 @default.
- W1497281287 hasConcept C126322002 @default.
- W1497281287 hasConcept C153911025 @default.
- W1497281287 hasConcept C180754005 @default.
- W1497281287 hasConcept C2776175824 @default.
- W1497281287 hasConcept C2777799968 @default.
- W1497281287 hasConcept C2777940137 @default.
- W1497281287 hasConcept C2779668550 @default.
- W1497281287 hasConcept C2908647359 @default.
- W1497281287 hasConcept C501734568 @default.
- W1497281287 hasConcept C54355233 @default.
- W1497281287 hasConcept C71924100 @default.
- W1497281287 hasConcept C86803240 @default.
- W1497281287 hasConcept C99454951 @default.
- W1497281287 hasConceptScore W1497281287C104317684 @default.
- W1497281287 hasConceptScore W1497281287C12125453 @default.
- W1497281287 hasConceptScore W1497281287C126322002 @default.
- W1497281287 hasConceptScore W1497281287C153911025 @default.
- W1497281287 hasConceptScore W1497281287C180754005 @default.
- W1497281287 hasConceptScore W1497281287C2776175824 @default.
- W1497281287 hasConceptScore W1497281287C2777799968 @default.
- W1497281287 hasConceptScore W1497281287C2777940137 @default.
- W1497281287 hasConceptScore W1497281287C2779668550 @default.
- W1497281287 hasConceptScore W1497281287C2908647359 @default.
- W1497281287 hasConceptScore W1497281287C501734568 @default.
- W1497281287 hasConceptScore W1497281287C54355233 @default.
- W1497281287 hasConceptScore W1497281287C71924100 @default.
- W1497281287 hasConceptScore W1497281287C86803240 @default.
- W1497281287 hasConceptScore W1497281287C99454951 @default.
- W1497281287 hasIssue "2" @default.
- W1497281287 hasLocation W14972812871 @default.
- W1497281287 hasOpenAccess W1497281287 @default.
- W1497281287 hasPrimaryLocation W14972812871 @default.
- W1497281287 hasRelatedWork W133759002 @default.
- W1497281287 hasRelatedWork W1977896757 @default.
- W1497281287 hasRelatedWork W1986956193 @default.
- W1497281287 hasRelatedWork W2051459115 @default.
- W1497281287 hasRelatedWork W2063264170 @default.
- W1497281287 hasRelatedWork W2085371830 @default.
- W1497281287 hasRelatedWork W2098001286 @default.
- W1497281287 hasRelatedWork W2100393875 @default.
- W1497281287 hasRelatedWork W2119723964 @default.
- W1497281287 hasRelatedWork W2149976224 @default.
- W1497281287 hasRelatedWork W2398529665 @default.
- W1497281287 hasRelatedWork W2545659235 @default.
- W1497281287 hasRelatedWork W2605741499 @default.
- W1497281287 hasRelatedWork W2989909836 @default.
- W1497281287 hasRelatedWork W3017104856 @default.
- W1497281287 hasRelatedWork W3134611134 @default.
- W1497281287 hasRelatedWork W3142705581 @default.
- W1497281287 hasRelatedWork W3189564244 @default.
- W1497281287 hasRelatedWork W3205710762 @default.
- W1497281287 hasRelatedWork W2983781698 @default.
- W1497281287 hasVolume "31" @default.
- W1497281287 isParatext "false" @default.
- W1497281287 isRetracted "false" @default.
- W1497281287 magId "1497281287" @default.
- W1497281287 workType "article" @default.