Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays

Abstract

We performed DNA analysis using cord blood samples on 86 male Malay neonates diagnosed as G6PD deficiency in the National University of Malaysia Hospital by a combination of rapid PCR-based techniques, single-stranded conformation polymorphism analysis (SSCP) and DNA sequencing. We found 37.2% were 871G>A (G6PD Viangchan), 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 (G6PD Vanua 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 (G6PD Orissa) 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 severe hyperbilirubinemia (serum bilirubin >340 micromol/l) requiring exchange transfusion. There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin level, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean number of days of phototherapy between the three common variants. In conclusion, the molecular defects of Malay G6PD deficiency is heterogeneous and G6PD Viangchan, Mahidol and Mediterranean account for at least 80% of the cases. Our findings support the observation that G6PD Viangchan and Mahidol are common Southeast Asian variants. Their presence in the Malays suggests a common ancestral origin with the Cambodians, Laotians and Thais. Our findings together with other preliminary data on the presence of the Mediterranean variant in this region provide evidence of strong Arab influence in the Malay Archipelago.

Glucose-6-phosphate dehydrogenase (G6PD) mutations in Myanmar: G6PD Mahidol (487G>A) is the most common variant in the Myanmar population

“…In that study, 21 cases of G6PD Viangchan (67.7%) were found among 31 cases of G6PD deficiency, while G6PD Mahidol comprised only 9.7% (3/31). Ainoon et al (2003) demonstrated nine G6PD variants among 84 cases of G6PD deficiency in Malaysian Malays. The main variants were G6PD Viangchan (38.1%), G6PD Mediterranean (27.4%), and G6PD Mahidol (15.5%).…”

“…This variant is common in Laos (100%) (Iwai et al 2001), Thailand (67.7%) (Nuchprayoon et al 2002), and Malaysia (38.1%) (Ainoon et al 2003). We did not detect G6PD Mediterranean, a common variant in Mediterranean countries, Middle Eastern countries, Pakistan and India (Luzzatto and Notaro 2001), and Nepal (Matsuoka et al 2003a).…”

Inference from the relationships between linkage disequilibrium and allele frequency distributions of 240 candidate SNPs in 109 drug-related genes in four Asian populations

“…Many published pharmacogenetic studies (Meyer 1994;Ainoon et al 1999;Hustert et al 2001;Iwai et al 2001;Xie et al 2001;Ainoon et al 2001;Chang et al 2002;Chowbay et al 2003;Tang et al 2002;Kroetz et al 2003;Tan et al 2003) focused on individual genes and limited mutations. There is restricted information on allele frequency and LD distributions of these genes on a genome-wide scale.…”

A novel R198H mutation in the glucose-6-phosphate dehydrogenase gene in the tribal groups of the Nilgiris in Southern India

“…Subsequently, this mutation was also reported from South East Asia, mainly Malaysia and Indonesia (Ainoon et al 2003;Kawamato et al 2006). However, this mutation has not been reported from India.…”