Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common enzyme deficiency of human erythrocyte affecting more than 400 million people worldwide. In India, G6PD deficiency was first reported in 1963 and ...Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common enzyme deficiency of human erythrocyte affecting more than 400 million people worldwide. In India, G6PD deficiency was first reported in 1963 and since then various investigations have been conducted across country. The objective of this work was to study the prevalence of G6PD deficiency in different ethnic, caste and linguistic groups of Indian population. A systematic search of published literature was undertaken and the wide variability of G6PD deficiency has been observed ranging from 0% - 30.7% among the different caste, ethnic, and linguistic groups of India. It was observed that the incidence of G6PD deficiency was found to be considerably higher among the tribes (9.86%) as compared to other ethnic groups (7.34%) and significantly higher in males as compared to females.展开更多
The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4...The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4.35% (10 of 230) females had G6PD deficiency. The molecular analysis of G6PD gene exons 2―13 was performed by a PCR-DHPLC-Sequencing or PCR-Sequencing. Sixteen inde-pendent subjects with G6PD Mahidol (487G>A) and the new polymorphism IVS5-612 (G>C), which combined into a novel haplotype, were identified accounting for 84.2% (16/19). And 100% Achang G6PD Mahidol were linked to the IVS5-612 C. The percentage of G6PD Mahidol in the Achang group is close to that in the Myanmar population (91.3% 73/80), which implies that there are some gene flows between Achang and Myanmar populations. Interestingly, G6PD Canton (1376G>T) and G6PD Kaiping (1388G>A), which were the most common G6PD variants from other ethnic groups in China, were not found in this Achang group, suggesting that there are different G6PD mutation profiles in the Achang group and other ethnic groups in China. Our findings appear to be the first documented report on the G6PD genetics of the AChang people, which will provide important clues to the Achang ethnic group origin and will help prevention and treatment of malaria in this area.展开更多
Objective To detect new mutations among 29 glucose 6 phosphate dehydrogenase (G6PD) deficient individuals from Yunnan province Methods The nitroblue tetrazolium (NBT) method was used to screen G6PD deficient ind...Objective To detect new mutations among 29 glucose 6 phosphate dehydrogenase (G6PD) deficient individuals from Yunnan province Methods The nitroblue tetrazolium (NBT) method was used to screen G6PD deficient individuals Mutation was identified by single strand conformation polymorphism (SSCP), amplification created restriction site (ACRS), amplification refractory mutation system (ARMS) and DNA sequencing Results Among 29 cases, 18 cases of G1388A, 1 case of C1004A, and 1 case of G1381A were identified Nine cases remained to be defined The G1381A mutation is a novel mis sense mutation, with a substitution of threonine for alanine (A461T) The resultant G6PD had reduced enzymatic activity In addition, G1381A caused a restriction site of Stu I to disappear, providing a rapid method for the detection of this mutation Conclusion A novel mis sense mutation G1381A was found This mutation results in a substitution of threonine for alanine, producing enzyme with reduced activity The loss of the Stu I restriction site offers a rapid method for the detection of this mutation展开更多
文摘Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is the most common enzyme deficiency of human erythrocyte affecting more than 400 million people worldwide. In India, G6PD deficiency was first reported in 1963 and since then various investigations have been conducted across country. The objective of this work was to study the prevalence of G6PD deficiency in different ethnic, caste and linguistic groups of Indian population. A systematic search of published literature was undertaken and the wide variability of G6PD deficiency has been observed ranging from 0% - 30.7% among the different caste, ethnic, and linguistic groups of India. It was observed that the incidence of G6PD deficiency was found to be considerably higher among the tribes (9.86%) as compared to other ethnic groups (7.34%) and significantly higher in males as compared to females.
基金Supported by the National Natural Science Foundation of China (Grant No. 30460049)
文摘The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4.35% (10 of 230) females had G6PD deficiency. The molecular analysis of G6PD gene exons 2―13 was performed by a PCR-DHPLC-Sequencing or PCR-Sequencing. Sixteen inde-pendent subjects with G6PD Mahidol (487G>A) and the new polymorphism IVS5-612 (G>C), which combined into a novel haplotype, were identified accounting for 84.2% (16/19). And 100% Achang G6PD Mahidol were linked to the IVS5-612 C. The percentage of G6PD Mahidol in the Achang group is close to that in the Myanmar population (91.3% 73/80), which implies that there are some gene flows between Achang and Myanmar populations. Interestingly, G6PD Canton (1376G>T) and G6PD Kaiping (1388G>A), which were the most common G6PD variants from other ethnic groups in China, were not found in this Achang group, suggesting that there are different G6PD mutation profiles in the Achang group and other ethnic groups in China. Our findings appear to be the first documented report on the G6PD genetics of the AChang people, which will provide important clues to the Achang ethnic group origin and will help prevention and treatment of malaria in this area.
基金ThisstudywassupportedbytheNationalNaturalScienceFoundationofChina (No 3 9670 40 1)
文摘Objective To detect new mutations among 29 glucose 6 phosphate dehydrogenase (G6PD) deficient individuals from Yunnan province Methods The nitroblue tetrazolium (NBT) method was used to screen G6PD deficient individuals Mutation was identified by single strand conformation polymorphism (SSCP), amplification created restriction site (ACRS), amplification refractory mutation system (ARMS) and DNA sequencing Results Among 29 cases, 18 cases of G1388A, 1 case of C1004A, and 1 case of G1381A were identified Nine cases remained to be defined The G1381A mutation is a novel mis sense mutation, with a substitution of threonine for alanine (A461T) The resultant G6PD had reduced enzymatic activity In addition, G1381A caused a restriction site of Stu I to disappear, providing a rapid method for the detection of this mutation Conclusion A novel mis sense mutation G1381A was found This mutation results in a substitution of threonine for alanine, producing enzyme with reduced activity The loss of the Stu I restriction site offers a rapid method for the detection of this mutation
