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Please use this identifier to cite or link to this item: http://hdl.handle.net/123456789/19399

Title: Genotype –Phenotype Correlation in Saudi β-Thalassemia Patients
Authors: Al-Shehri, Tahani Mohammad Ahmad
Warsy, Prof. Arjumand S
Keywords: Genotype- phenotype correlation
β-thalassemia
تاريخ النشر: 24-ينا-2011
Abstract: Beta-thalassemias represent a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. In each population only a few (~6) common mutations in the -globin have been found to be responsible for -thalassemia, which indicate population differences. In Saudi Arabia - thalassemia occurs in high frequency in some regions and premarital screening has been implemented for this disorder. No comprehensive mutational screening for the –globin gene locus have been carried so far in Saudi Arabia. This study was designed with the objective to sequence the -globin gene in -thalassemia patients and to investigate the genotype phenotype correlation. 110 -thalassemia patients were enrolled in the study and hematological and biochemical data were recorded, DNA was extracted and a 3.8Kb fragment of the -globin gene was sequenced. The -globin gene cluster at chromosome 11 was subjected to haplotype analysis using different restriction endonucleases in some of these patients. Direct sequencing of the -globin gene identified a total of 8 previously reported point mutations and one novel small deletion in 39% of the patients. -thalassemia major patients were either homozygous or compound heterozygous for the mutations, while - thalassemia minor patients were heterozygous for these mutations. In addition 53 variants were identified in the cohort of patients. Haplotype analysis revealed 7 novel haplotypes and demonstrated that Hap 1, Hap 11 and Hap 4 are the most prevalent haplotypes in these patients. This study characterizes the common mutations and variants in the -globin gene in Saudi Arabia and correlate between the genotypes and the phenotypes of the cohort of patients enrolled.
URI: http://hdl.handle.net/123456789/19399
يظهر في المجموعات:College of Science

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