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Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates

Ainoon Othman , and Boo, Nem Yun, and Yu, Yuang Hong, and Cheong, Soon Keng, and Noor Hamidah Hussin, and Lim, Jee Hiang, (2004) Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates. Malaysian Journal of Pathology, 26 (2). pp. 89-98. ISSN 0126-8635

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Official URL: http://www.mjpath.org.my/past_issue/MJP2004.2/02%20G6PD.pdf

Affiliations

Universiti Kebangsaan Malaysia, Faculty of Medicince, Dept. of Pathology
Universiti Kebangsaan Malaysia. Faculty of Medicine, Dept. of Paediatrics
Universiti Kebangsaan Malaysia, Faculty of Medicince, Dept. of Pathology
Universiti Kebangsaan Malaysia, Faculty of Medicince, Dept. of Pathology
Universiti Kebangsaan Malaysia, Faculty of Medicince, Dept. of Pathology
Universiti Kebangsaan Malaysia, Faculty of Medicince, Dept. of Pathology

Abstract

We performed DNA analysis on cord blood samples of 128 Chinese male neonates diagnosed as G6PD deficiency in Hospital Universiti Kebangsaan Malaysia by a combination PCR-restriction enzyme digest technique, Single Stranded Conformation Polymorphism analysis and DNA sequencing.
We found 10 different G6PD-deficient mutations exist. The two commonest alleles were G6PD Canton 1376 G>T (42.3%) and Kaiping 1388 G>A (39.4%) followed by G6PD Gaohe 592 G>A (7.0%), Chinese-5 1024 C>T, Nankang 517 T>C (1.5%), Mahidol 487 G>A (1.6%), Chatham 1003 G>T (0.8%), Union 1360 C>T (0.8%), Viangchan 871 G>A (0.8%) and Quing Yang 392 G>T (0.8%). Sixty eight percent (88/125) neonates in this study had neonatal jaundice and 29.7% developed hyperbilirubinemia >250 μmol/l. The incidence of hyperbilirubinemia >250 μmol/l was higher in G6PD Kaiping (43.8%) than G6PD Canton (22%) (p< 0.05). There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean duration of phototherapy between the two major variants. None of the 88 neonates required exchange transfusion. In conclusion we have completely characterized the molecular defects of a group of Chinese G6PD deficiency in Malaysia. The mutation distribution reflects the original genetic pool and limited ethnic admixture with indigenous Malays.

Item Type:Journal
Keywords:Glucose-6-phosphate dehydrogenase, G6PD, molecular variants, Chinese
Subjects:R Medicine, Dentistry, Pharmacy, Nursing
ID Code:1840

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