Molecular characterization of G6PD deficiency in Cyprus

Blood Cells, Molecules & Diseases
Anthi DrousiotouSarah A Tishkoff

Abstract

In the present study, we determined the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Cyprus using two different procedures in two separate adult population groups: a semiquantitative fluorescence test on blood spotted on filter paper and a quantitative spectrophotometric test on liquid blood. The frequency of G6PD deficiency among healthy adult males was found to be 5.1% using the semiquantitative procedure and 6.4% using the quantitative procedure. Neither method was able to detect all the expected female heterozygotes (5.3% and 47.1% of the expected number, respectively). A total of 21 male hemizygotes, 1 female homozygote and 9 female heterozygotes that tested positive for G6PD deficiency were studied at the molecular level. All 32 chromosomes were genotyped and five different mutations were identified. The Mediterranean mutation in exon 6 (563C-->T) (Ser188Phe) was found to be the most common variant in the Cypriot population, accounting for 52.6% of the deficient alleles. In the remaining chromosomes, four different mutations were identified: three known mutations, Kaiping 1388G-->A (Arg463His), Chatham 1003G-->A (Ala335Thr) and Acrokorinthos 463C-->G (His155Asp), and one previously undescribed mutat...Continue Reading

References

Aug 1, 1992·British Journal of Haematology·E BaysalG T Yüregir
Jan 1, 1992·Human Heredity·E BeutlerY E Hsia
Mar 1, 1992·Human Genetics·C M CorcoranL Luzzatto
Oct 31, 1991·Biochemical and Biophysical Research Communications·D T ChiuC S Du
Jun 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·A Hirono, E Beutler
Jun 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·T TakizawaA Yoshida
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jul 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·T J VulliamyM Town
Jun 16, 1973·British Medical Journal·H A Waldron
Aug 19, 1972·British Medical Journal·C KattamisN Matsaniotis
Aug 1, 1997·Blood Cells, Molecules & Diseases·T BulliamyE Beutler
Jun 18, 2002·Blood Cells, Molecules & Diseases·Ernest Beutler, Tom J Vulliamy
Oct 16, 2002·American Journal of Human Genetics·Brian C VerrelliSarah A Tishkoff

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Citations

Aug 24, 2013·Blood Cells, Molecules & Diseases·Stéphane MazièresJacques Chiaroni
Mar 1, 2012·Blood Cells, Molecules & Diseases·Mahmoud SirdahJosef T Prchal
Feb 2, 2012·Blood Cells, Molecules & Diseases·Angelo MinucciEttore Capoluongo
Feb 24, 2009·Blood Cells, Molecules & Diseases·Ella T NkhomaErnest Beutler
Feb 2, 2010·Hematology/oncology and Stem Cell Therapy·Suleimman A Al-SweedanHala S Al-Rimawi
Jun 6, 2006·Molecular Biology and Evolution·Brian C VerrelliJeffrey W Touchman
Jun 20, 2020·Journal of Clinical Laboratory Analysis·Shanshan ShenXijiang Hu

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