Document Details
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Document Type |
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Article In Journal |
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Document Title |
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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 |
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Document Language |
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English |
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Abstract |
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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. |
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ISSN |
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1751-5521 |
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Journal Name |
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International journal of laboratory hematology |
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Volume |
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32 |
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Issue Number |
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1 |
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Publishing Year |
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1429 AH
2008 AD |
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Article Type |
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Article |
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Added Date |
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Sunday, July 18, 2010 |
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Researchers
| ممدوح قاري | Qari, Mamdooh | Investigator | Doctorate | mgari@kau.edu.sa |
| عديل شودري | Chaudhary, Adeel | Researcher | Doctorate | |
| محمد القحطاني | Al-Qahtani, Mohammed | Researcher | Doctorate | |
| عادل أبو زنادة | Abuzenadah, Adel | Researcher | Doctorate | |
| هدى بني | Banni, Huda | Researcher | Master | |
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