Molecular Variants of Red Cell Glucose-6-Phosphate Dehydrogenase Deficiency in Central Java, Indonesia

Abstract

One hundred and sixty-nine Javanese males were screened for the presence of red cell glucose-6-phosphate dehydrogenase (G6PD) variants by a dye decoloration screening test and starch gel electrophoresis. The frequency of G6PD deficiency was 14%. Three non-deficient electrophoretic variants with mobilities of 95, 105 and 107% of Gd^B+ were encountered. Sixteen G6PD-defïcient subjects were further investigated for the presence of mutations at nt95 A→G, nt487 G→A, nt493 A→G, nt563 C→T, nt1024 C→T, nt1376 G→T, nt1388 G→A and the silent mutation (nt1311 C→T) of the G6PD gene by natural or artificially created amplified restriction sites. They were identified by the polymerase chain reaction and electrophoresis of restriction-digested products. Five subjects had the Mediterranean mutation (nt563 C→T), but only one had simultaneous presence of nt1311(T). The next common mutations were 1376(T) in three subjects and 487(A) in two subjects. Five of the sixteen subjects had the nt 1311(T) mutation giving an overall frequency of 0.31. The other four mutations were absent in this population sample.

Five different glucose-6-phophate dehydrogenase (G6PD) variants found among 11 G6PD-deficient persons in Flores Island, Indonesia

“…Data of Nepal, Myanmar, Laos, Surabaya, and Ambon (Halmahera Islands) are from our previous reports (Iwai et al 2001;Matsuoka et al 2003). Data of Thailand, Malaysia, Central Java, Philippines, and Papua New Guinea are from reports by Nuchprayoon et al (2002), Ainoon et al (2003), Soemantri et al (1995), Silao et al (1999) and Wagner et al (1996), respectively. Data from Chinese origin are omitted results.…”

Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar

“…G6PD Kerala-Kalyan (949G [ A) was reported to be prevalent (24.9%) in India (Sukumar et al 2004). None of these mutations were found in Thai, Laotians, or Cambodians, whereas G6PD Mediterranean was found in approximately 30% of G6PD-deficient Indonesians from central Java (Soemantri et al 1995), 27% of G6PD-deficient Malaysian Malays (Ainoon et al 2002), occasionally in Thais of the southern province of Thailand (Laosombat et al 2005), and G6PD KeralaKalyan was also identified in Urak-Lawoi, a sea Gypsy population of the Andaman Sea who inhabited Phuket Island in southern Thailand (Ninokata et al 2006). Both polymorphisms C and T are present at nt 1311 in Indians Numbers represent number of G6PD mutations identified.…”

Further investigations of glucose-6-phosphate dehydrogenase variants in Flores Island, eastern Indonesia

“…In fact, five cases of G6PD Mediterranean, three of G6PD Canton, two of G6PD Mahidol and one of G6PD Coimbra (592C>T) have been reported in Javanese (Soemantri et al 1995;Iwai et al 2001). Furthermore, we have reported 11 cases of G6PD Vanua Lava in Amboinese on Buru and Halmahera Islands, and five mixed variants of G6PD Canton, G6PD Kaiping, G6PD Gaohe, G6PD Chatham and G6PD Surabaya (1291G>A) in ethnic Chinese on Surabaya (Iwai et al 2001).…”