Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Eastern Province of Saudi Arabia
The level of activity of the enzyme glucose-6-phosphate dehydrogenase (G6PD) was determined in 154 unrelated Saudi males and females with G6PD deficiency who were residing in the Eastern Province of Saudi Arabia. DNA was extracted from blood samples and analyzed for known G6PD mutations by polymeras...
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| Veröffentlicht in: | Clinical chemistry and laboratory medicine 2002-08, Vol.40 (8), p.814-816 |
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| container_title | Clinical chemistry and laboratory medicine |
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| creator | Al-Ali, Amein K. Al-Mustafa, Zaki H. Al-Madan, Mohammed Qaw, Foad Al-Ateeq, Suad |
| description | The level of activity of the enzyme glucose-6-phosphate dehydrogenase (G6PD) was determined in 154 unrelated Saudi males and females with G6PD deficiency who were residing in the Eastern Province of Saudi Arabia. DNA was extracted from blood samples and analyzed for known G6PD mutations by polymerase chain reaction (PCR) and restriction fragment length polymorphism techniques. Two different polymorphic mutations were identified which accounted for 90% of the samples analyzed. Of 114 G6PD-deficient males, 96 had G6PD Mediterranean, nine had African deficient variant G6PD A- and in nine the mutation has not been identified. Of the 40 G6PD-deficient females, 34 were homozygous for the G6PD Mediterranean mutation and six were genetic compound, G6PD Mediterranean/G6PD A-. The data indicate that the G6PD Mediterranean mutation is the most common (84%) in the Eastern Province, followed by G6PD A-(5.8%). Seventy one subjects who suffered from favism were found to carry the Mediterranean mutation. |
| doi_str_mv | 10.1515/CCLM.2002.141 |
| format | Article |
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DNA was extracted from blood samples and analyzed for known G6PD mutations by polymerase chain reaction (PCR) and restriction fragment length polymorphism techniques. Two different polymorphic mutations were identified which accounted for 90% of the samples analyzed. Of 114 G6PD-deficient males, 96 had G6PD Mediterranean, nine had African deficient variant G6PD A- and in nine the mutation has not been identified. Of the 40 G6PD-deficient females, 34 were homozygous for the G6PD Mediterranean mutation and six were genetic compound, G6PD Mediterranean/G6PD A-. The data indicate that the G6PD Mediterranean mutation is the most common (84%) in the Eastern Province, followed by G6PD A-(5.8%). Seventy one subjects who suffered from favism were found to carry the Mediterranean mutation.</description><identifier>ISSN: 1434-6621</identifier><identifier>EISSN: 1437-4331</identifier><identifier>DOI: 10.1515/CCLM.2002.141</identifier><identifier>PMID: 12392311</identifier><language>eng</language><publisher>Berlin: Walter de Gruyter</publisher><subject>Biological and medical sciences ; Female ; Gene Frequency ; Glucosephosphate Dehydrogenase - blood ; Glucosephosphate Dehydrogenase - genetics ; Glucosephosphate Dehydrogenase Deficiency - genetics ; Humans ; Male ; Medical sciences ; Nervous system (semeiology, syndromes) ; Nervous system as a whole ; Neurology ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Saudi Arabia - epidemiology</subject><ispartof>Clinical chemistry and laboratory medicine, 2002-08, Vol.40 (8), p.814-816</ispartof><rights>2003 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c357t-406ff6e40eb7d20dc7c00ade3297d68776b016030dcc560e1a7dcabdc5f571723</citedby><cites>FETCH-LOGICAL-c357t-406ff6e40eb7d20dc7c00ade3297d68776b016030dcc560e1a7dcabdc5f571723</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13912866$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12392311$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Al-Ali, Amein K.</creatorcontrib><creatorcontrib>Al-Mustafa, Zaki H.</creatorcontrib><creatorcontrib>Al-Madan, Mohammed</creatorcontrib><creatorcontrib>Qaw, Foad</creatorcontrib><creatorcontrib>Al-Ateeq, Suad</creatorcontrib><title>Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Eastern Province of Saudi Arabia</title><title>Clinical chemistry and laboratory medicine</title><addtitle>Clinical Chemistry and Laboratory Medicine</addtitle><description>The level of activity of the enzyme glucose-6-phosphate dehydrogenase (G6PD) was determined in 154 unrelated Saudi males and females with G6PD deficiency who were residing in the Eastern Province of Saudi Arabia. DNA was extracted from blood samples and analyzed for known G6PD mutations by polymerase chain reaction (PCR) and restriction fragment length polymorphism techniques. Two different polymorphic mutations were identified which accounted for 90% of the samples analyzed. Of 114 G6PD-deficient males, 96 had G6PD Mediterranean, nine had African deficient variant G6PD A- and in nine the mutation has not been identified. Of the 40 G6PD-deficient females, 34 were homozygous for the G6PD Mediterranean mutation and six were genetic compound, G6PD Mediterranean/G6PD A-. The data indicate that the G6PD Mediterranean mutation is the most common (84%) in the Eastern Province, followed by G6PD A-(5.8%). Seventy one subjects who suffered from favism were found to carry the Mediterranean mutation.</description><subject>Biological and medical sciences</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Glucosephosphate Dehydrogenase - blood</subject><subject>Glucosephosphate Dehydrogenase - genetics</subject><subject>Glucosephosphate Dehydrogenase Deficiency - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Nervous system as a whole</subject><subject>Neurology</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Saudi Arabia - epidemiology</subject><issn>1434-6621</issn><issn>1437-4331</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkE1v1DAQhi0EoqVw5Ip8obcs_ojt3WMV2oK0bRco4mhN7AkxZOPFThDbX09CV-xpZvQ-ekd6CHnN2YIrrt5V1fpmIRgTC17yJ-SUl9IUpZT86b-9LLQW_IS8yPkHY1yp0jwnJ1zIlZCcn5J0Ezt0YweJVi0kcAOm8ABDiD2NDb3uRhczFrrYtDHvWhiQvsd271P8jj3k-WqCC9i7PQ09HVqkl5Cnkp5uUvwdeodzzxcYfaAXCeoAL8mzBrqMrw7zjHy9uryvPhTru-uP1cW6cFKZoSiZbhqNJcPaeMG8M44x8CjFyni9NEbXjGsmp8QpzZCD8Q5q71SjDDdCnpHzx95dir9GzIPdhuyw66DHOGZrBF9puTQTWDyCLsWcEzZ2l8IW0t5yZmfJdpZsZ8l2kjzxbw7FY71Ff6QPVifg7QGA7KBrEvQu5CMnV1wstT4-DpOxP_9zSD-tNtIo--m-tEvBNubz7Td7K_8CRIaUJA</recordid><startdate>200208</startdate><enddate>200208</enddate><creator>Al-Ali, Amein K.</creator><creator>Al-Mustafa, Zaki H.</creator><creator>Al-Madan, Mohammed</creator><creator>Qaw, Foad</creator><creator>Al-Ateeq, Suad</creator><general>Walter de Gruyter</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200208</creationdate><title>Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Eastern Province of Saudi Arabia</title><author>Al-Ali, Amein K. ; Al-Mustafa, Zaki H. ; Al-Madan, Mohammed ; Qaw, Foad ; Al-Ateeq, Suad</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c357t-406ff6e40eb7d20dc7c00ade3297d68776b016030dcc560e1a7dcabdc5f571723</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Biological and medical sciences</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Glucosephosphate Dehydrogenase - blood</topic><topic>Glucosephosphate Dehydrogenase - genetics</topic><topic>Glucosephosphate Dehydrogenase Deficiency - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous system as a whole</topic><topic>Neurology</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Saudi Arabia - epidemiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Al-Ali, Amein K.</creatorcontrib><creatorcontrib>Al-Mustafa, Zaki H.</creatorcontrib><creatorcontrib>Al-Madan, Mohammed</creatorcontrib><creatorcontrib>Qaw, Foad</creatorcontrib><creatorcontrib>Al-Ateeq, Suad</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical chemistry and laboratory medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Al-Ali, Amein K.</au><au>Al-Mustafa, Zaki H.</au><au>Al-Madan, Mohammed</au><au>Qaw, Foad</au><au>Al-Ateeq, Suad</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Eastern Province of Saudi Arabia</atitle><jtitle>Clinical chemistry and laboratory medicine</jtitle><addtitle>Clinical Chemistry and Laboratory Medicine</addtitle><date>2002-08</date><risdate>2002</risdate><volume>40</volume><issue>8</issue><spage>814</spage><epage>816</epage><pages>814-816</pages><issn>1434-6621</issn><eissn>1437-4331</eissn><abstract>The level of activity of the enzyme glucose-6-phosphate dehydrogenase (G6PD) was determined in 154 unrelated Saudi males and females with G6PD deficiency who were residing in the Eastern Province of Saudi Arabia. DNA was extracted from blood samples and analyzed for known G6PD mutations by polymerase chain reaction (PCR) and restriction fragment length polymorphism techniques. Two different polymorphic mutations were identified which accounted for 90% of the samples analyzed. Of 114 G6PD-deficient males, 96 had G6PD Mediterranean, nine had African deficient variant G6PD A- and in nine the mutation has not been identified. Of the 40 G6PD-deficient females, 34 were homozygous for the G6PD Mediterranean mutation and six were genetic compound, G6PD Mediterranean/G6PD A-. The data indicate that the G6PD Mediterranean mutation is the most common (84%) in the Eastern Province, followed by G6PD A-(5.8%). Seventy one subjects who suffered from favism were found to carry the Mediterranean mutation.</abstract><cop>Berlin</cop><cop>New York, NY</cop><pub>Walter de Gruyter</pub><pmid>12392311</pmid><doi>10.1515/CCLM.2002.141</doi><tpages>3</tpages></addata></record> |
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| ispartof | Clinical chemistry and laboratory medicine, 2002-08, Vol.40 (8), p.814-816 |
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| language | eng |
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| source | MEDLINE; De Gruyter journals |
| subjects | Biological and medical sciences Female Gene Frequency Glucosephosphate Dehydrogenase - blood Glucosephosphate Dehydrogenase - genetics Glucosephosphate Dehydrogenase Deficiency - genetics Humans Male Medical sciences Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Point Mutation Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Saudi Arabia - epidemiology |
| title | Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Eastern Province of Saudi Arabia |
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