Pedigree analysis of glucose-6 phosphate dehydrogenase (G6PD) deficiency of a Javanese Chinese family in Indonesia
The molecular and pedigree analyses in a Javanese Chinese family were carried oul on glucose-6-phosphate dehydrogenase deficiencies. By method of Â 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).
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.
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