Amkha Sanephonasa1, Chalisa Louicharoen Cheepsunthorn2, Naly Khaminsou3, Onekham Savongsy3, Issarang Nuchprayoon4, Kamonlak Leecharoenkiat5. 1. Oxidation in Red Cell Disorders Research Unit, Department of Clinical Microscopy, Faculty of Allied Health Sciences, Chulalongkorn University, 154, Rama I Road, Patumwan District, 10330, Bangkok, Thailand. 2. Department of Biochemistry, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. 3. Department of Medical Laboratory, Faculty of Medical Technology, University of Health Sciences, Vientiane, Lao PDR. 4. Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. 5. Oxidation in Red Cell Disorders Research Unit, Department of Clinical Microscopy, Faculty of Allied Health Sciences, Chulalongkorn University, 154, Rama I Road, Patumwan District, 10330, Bangkok, Thailand. rbc_2524@hotmail.com.
Abstract
BACKGROUND: The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first-time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study. METHODS: A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed. RESULTS: The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62% (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13% (23/252). The prevalence of G6PD deficient males and females (activity < 30%) in the Lao Theung population was 6.41% (5/78) and 1.72% (3/174), respectively, and the prevalence of G6PD intermediate (activity 30-70%) was 5.95% (15/252). CONCLUSIONS: The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.
BACKGROUND: The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first-time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study. METHODS: A total of 252 unrelated Lao Theung participants residing in the LaoPeople's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed. RESULTS: The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62% (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PDMahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13% (23/252). The prevalence of G6PD deficient males and females (activity < 30%) in the Lao Theung population was 6.41% (5/78) and 1.72% (3/174), respectively, and the prevalence of G6PD intermediate (activity 30-70%) was 5.95% (15/252). CONCLUSIONS: The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.
Authors: K Nafa; A Reghis; N Osmani; L Baghli; M Benabadji; J C Kaplan; T J Vulliamy; L Luzzatto Journal: Hum Mol Genet Date: 1993-01 Impact factor: 6.150
Authors: Anthi Drousiotou; Elias H Touma; Nicoletta Andreou; Jacques Loiselet; Michalis Angastiniotis; Brian C Verrelli; Sarah A Tishkoff Journal: Blood Cells Mol Dis Date: 2004 Jul-Aug Impact factor: 3.039