Document Details

Document Type : Article In Journal 
Document Title :
Frequency of Mediterranean mutation among a group of Saudi G6PD patients in Western region-Jeddah
Frequency of Mediterranean mutation among a group of Saudi G6PD patients in Western region-Jeddah
 
Document Language : English 
Abstract : Glucose-6-phosphate dehydrogenase deficiency (G6PD), a common human enzymatic defects characterized by extreme molecular and biochemical heterogeneity is found to have a variable frequency in different regions. The molecular basis of polymorphic variants in Saudi Arabia have yet to be fully addressed to. Accordingly, a study was designed to determine the frequency of G6PD gene mutations in G6PD deficient cases. From forty-seven unrelated G6PD-deficient subjects, DNA was extracted individually from peripheral blood samples and exons 6 and 7 of the G6PD gene were amplified by PCR. Mutation analysis was carried out by using conformation sensitive gel electrophoresis (CSGE), followed by direct DNA sequencing. The results showed definite altered CSGE patterns. Two mutations were resolved in exon 6 of G6PD gene; Mediterranean mutation and Sibari mutation, not previously reported so far; while no mutation was detected in exon 7. The frequency of exons 6 mutations responsible for G6PD deficiency (Mediterranean type) is reported for the first time from this region, with a figure of 50.1%. The absence of other mutations in exon 7 causing G6PD deficiency points to the low genetic diversity in the studied population. 
ISSN : 1751-5521 
Journal Name : International journal of laboratory hematology 
Volume : 32 
Issue Number : 1 
Publishing Year : 1429 AH
2008 AD 
Article Type : Article 
Added Date : Sunday, July 18, 2010 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
ممدوح قاريQari, Mamdooh InvestigatorDoctoratemgari@kau.edu.sa
عديل شودريChaudhary, Adeel ResearcherDoctorate 
محمد القحطانيAl-Qahtani, Mohammed ResearcherDoctorate 
عادل أبو زنادةAbuzenadah, Adel ResearcherDoctorate 
هدى بنيBanni, Huda ResearcherMaster 

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