Pedigree analysis of glucose-6 phosphate dehydrogenase (G6PD) deficiency of a Javanese Chinese family in Indonesia

IDG Ugrasena; Taku Shirakawa; Kaoru Nishiyama; Masafumi Matsuo

doi:10.14238/pi41.1.2001.56-9

IDG Ugrasena Department of Child Health, Airlangga University Medical School/Dr. Soetomo Hospital, Surabaya, East Java
Taku Shirakawa Faculty of Health Science, Kobe University School of Medicine Tomogaoka, Suma, Kobe
Kaoru Nishiyama Faculty of Health Science, Kobe University School of Medicine Tomogaoka, Suma, Kobe
Masafumi Matsuo Division of Genetic, International Center for Medical Research, Kobe University School of Medicine, Kusumoki-cho, Chuo, Kobe

DOI: https://doi.org/10.14238/pi41.1.2001.56-9

Keywords: glucose-6-phosphatase dehydrogenase deficiency, multiplex polymerase chain reaction, hyperbilirubinemia

Abstract

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).

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