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The molecular and pedigree analyses in a Javanese Chinese family were carried oul on glucose-6-phosphate dehydrogenase deficiencies. By method of MPTP scanning without the sequencing steps, those variants could be confirmed. Two out of three sons were clinically jaundiced at birth due to G6PD deficiency and identified to have a G to T nucleotide change al 1376th nucleotide 01 the G6PD gene (GI376T), corresponding to G6PD Canton. Another son was also identified to have a C to T nucleotide change at 1311st nucleotide 01 the G6PD gene (CI311T), corresponding to a Silent mutation. Their father was normal, but their mother obsorved to have the heleromutation 01 G1376T (G6PD Canton and C1311T (a Silent mutation).
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2. Beutler E. G6PD deficiency. Blood 1994; 84:3613-36.
3. Hirono A. Fujii H, Hirono K. Kanno H, Miwa S. Molecular abnormality of a Japanese glucose-6-phosphate dehydrogenase variant (G6PD Tokyo) associated with hereditary non-spherocytic hemolytic anemia. Hum Genet 1992;88:347-8.
4. Sumantri AG. Saha S, Saha N, Tay JSH. Molecular variants of red cell glucose-6-phosphate dehydrogenase deficiency in Central Java, Indonesia. Hum Hered 1994; 45:346-50.
5. Du es, Xu YK, Hua xy, WU QL. Lin LB. Glucose-6- phosphate dehydrogenase variants and their frequency in Guangdong. China. Hum Genet. 1988; 80:385-8.
6. Panich V. G6PD variants in Southern Asian populations. In: Yoshida A, Beutler E, editors. Glucose-6-phosphatede dehydrogenase. Academic Press Orlando, Fla; 1986. p.195-241.
7. Chockkalingam K, Board PG, Brequet G. Glucose-6-phosphate dehydrogenase variants of Bali Island, Indonesia. Hum Genet. 1992; 60:60-62.
8. Kirkman HN, Lie lnjo LE. Variants of glucose-6-phosphate dehydrogenase in Indonesia. Nature 1969; 221:259-60.
9. Deutsch J. Glucose-6-phosphate dehydrogenase method of enzymatic analysis. 3rd ed. 1983;3:190-7.
10. Varuetti G. Anazide - methemoglobin method for hemoglobin determination in blood. J Lab Clin Med. 1966;67:116-26.
11. Shirakawa T; Nishiyama K, Poh San L, Matsuo M. A comprehensive method to scan for point mutation of the glucose-6-phosphate dehydrogenase gene. Jpn J Human Genet. 1997;42:417-23.
12. Gonzales Quiroga C, Rico BG, Ibarra B, Vaca G. Garza CR. Deficiency of glucose-6-phosphate dehydrogenase in a family. Arch Invest Med Max (abstract). 1989;20:229-12.
13. Saha S. Saha N, Tay JSH, Jeyseelan K, Basair J, Chew SE. Molecular characterization of G6PD deficiency in Singapore Chinese. Am J Hematol. 1994;47:273-7.
14. Chang JG, Chiou SS, Perng LI, Chen TC, Lin TC, Lee IS, et al. Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and artificiall created sites: five mutation accuount for most G6PD deficiency cases in Taiwan. Blood. 1992;80:1079-152.
15. Panich V. G6PD deficiency in Thailand. In: TDRC research meeting on G6PD deficiency, tropical disease research center, Airlangga University, Surabaya, Indonesia; 1995. p.1-18.
16. Huang CS. Hung KL. Huang Mj, Li YC. Liu TH, Tang TK. Neonatal jaundice and molecular mutation in glucose-6-phosphate dehydrogenase deficient newborn infants. Am J Hematol. 1996; 51:19-25.
17. Lo YS, Lu CC, Chiou SS, Chen BH, Chang TT, Chang JG. Molecular characterization of glucose-6-dehydrogenase deficiency in Chinese infants without severe heonatal hyperbilirubinemia. Br J Haematol. 1994;86;858-62.