MUTATION IN BRIEF
HUMAN MUTATION Mutation in Brief #574 (2002) Online
WILEY-LISS, INC.DOI: 10.1002/humu.9103
Received 29 April 2002; accepted revised manuscript 29 October 2002.
Glucose-6-Phosphate Dehydrogenase (G6PD)Variants in Malaysian Malays
, Y.H. Yu
, A.L. Amir Muhriz
, N.Y. Boo
, S.K. Cheong
, and N.H. Hamidah
Department of Pathology, Faculty of Medicine, National University of Malaysia, Kuala Lumpur, Malaysia;
Department of Paediatrics, Faculty of Medicine, National University of Malaysia, Kuala Lumpur, Malaysia
*Correspondence to: Dr. Othman Ainoon, Department of Pathology, Faculty of Medicine, National Universityof Malaysia, Jalan Yaacob Latif, Bandar Tun Razak, Cheras, 56000, Kuala Lumpur, Malaysia; Tel.: 603-91703789; Fax: 603-91737340; E-mail: email@example.com
Ministry of Science, Technology and Environment
Malaysia; Grant number: IRPA GRANTNO. 06-02-02-0072.
Communicated by Mark H. Paalman
We performed DNA analysis using cord blood samples on 86 male Malay neonatesdiagnosed as G6PD deficiency in the National University of Malaysia Hospital by acombination of rapid PCR-based techniques, single-stranded conformation polymorphismanalysis (SSCP) and DNA sequencing. We found 37.2% were 871G>A (G6PDViangchan), 26.7% were nt 563 C>T (G6PD Mediterranean ) and 15.1% were 487G>A(G6PD Mahidol) followed by 4.7% 1376G>T (G6PD Canton), 3.5% 383T>C (G6PDVanua Lava), 3.5% 592C>T ( G6PD Coimbra), 2.3% 1388G>A (G6PD Kaiping), 2.3%1360C>T (G6PD Union), 2.3% 1003G>A (G6PD Chatham ), 1.2% 131C>G (G6PDOrissa) and 1.2% 1361G>A (G6PD Andalus). Seventy-one (82.6%) of the 86 G6PD-deficient neonates had neonatal jaundice. Fifty seven (80%) of the 71 neonates with jaundice required phototherapy with only one neonate progressing to severehyperbilirubinemia (serum bilirubin >340
mol/l) requiring exchange transfusion. Therewas no significant difference in the incidence of neonatal jaundice , mean serum bilirubinlevel, mean age for peak serum bilirubin, percentage of babies requiring phototherapyand mean number of days of phototherapy between the three common variants. Inconclusion, the molecular defects of Malay G6PD deficiency is heterogeneous and G6PDViangchan, Mahidol and Mediterranean account for at least 80% of the cases. Ourfindings support the observation that G6PD Viangchan and Mahidol are commonSoutheast Asian variants. Their presence in the Malays suggests a common ancestralorigin with the Cambodians, Laotians and Thais. Our findings together with otherpreliminary data on the presence of the Mediterranean variant in this region provideevidence of strong Arab influence in the Malay Archipelago. ©
2002 Wiley-Liss, Inc.
Key Words: Glucose-6-phosphate dehydrogenase, G6PD, molecular variants, Malays
Glucose-6-phosphate dehydrogenase (G6PD, MIM# 305900) deficiency is the commonest enzymopathy inhuman estimated to affect 400 million individuals worldwide. G6PD deficient individuals are usuallyasymptomatic but acute haemolysis may occur with oxidative stress induced by ingestion of drugs, certain typeof food, exposure to certain chemical substances or when there is accompanying infection or hypoxia. Rarely, itmay cause chronic non-spherocytic haemolytic anemia. One of the most important complications of G6PDdeficiency is severe neonatal hyperbilirubinemia and the risk of developing kernicterus, a problem especiallyseen in G6PD-deficient individuals in the Mediterranean and Asia (Beutler, 1991; Brown and Boon, 1981; Tan,