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

Main Article Content

IDG Ugrasena
Taku Shirakawa
Kaoru Nishiyama
Masafumi Matsuo

Abstract

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).

Article Details

How to Cite
1.
Ugrasena I, Shirakawa T, Nishiyama K, Matsuo M. Pedigree analysis of glucose-6 phosphate dehydrogenase (G6PD) deficiency of a Javanese Chinese family in Indonesia. PI [Internet]. 8Feb.2017 [cited 13Aug.2020];41(1-2):56-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/1268
Section
Articles
Received 2017-02-08
Published 2017-02-08

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