Seven different glucose-6-phosphate dehydrogenase variants including a new variant distributed in Lam Dong Province in southern Vietnam.

نویسندگان

  • Hiroyuki Matsuoka
  • Dang Thi Vinh Thuan
  • Huynh van Thien
  • Toshio Kanbe
  • Amadu Jalloh
  • Makoto Hirai
  • Meiji Arai
  • Nguyen The Dung
  • Fumihiko Kawamoto
چکیده

We conducted a survey for glucose-6-phosphate dehydrogenase (G6PD) deficiency using blood samples from male outpatients of a local hospital in southern Vietnam. Most of the samples were from the Kinh (88.9%), the largest ethnic group in Vietnam, with a small number (11.1%) coming from the K'Ho, Chauma, Nung, and Tay minorities. We detected 25 G6PD-deficient cases among 1,104 samples (2.3%), and read the open reading frame of G6PD. A novel mutation (352T>C) predicting an aminoacid change of 118Tyr>His was found in a 1-year-old Kinh boy. His G6PD activity was estimated to be less than 10% residual activity, although he did not show chronic hemolytic anemia. Thus, we categorized this variant as Class II and named it G6PD Bao Loc. In the Kinh population, G6PD Viangchan (871G>A, 1311C>T, intron 11 nt93T>C), one of the most common variants in continental Southeast Asian populations, was the highest (6/19), followed by variants originating from the Chinese such as G6PD Canton (1376G>T) (5/19), G6PD Kaiping (1388G>A) (3/19), G6PD Gaohe (95A>G) (1/19), and G6PD Quing Yuan (392G>T) (1/19). In addition, G6PD Union (1360C>T) (2/19), which originated from the Oceania, was also detected. These findings suggest that the Kinh people are derived from various ancestries from continental Southeast Asia, China, and Oceania. In contrast, all of the 5 deficient cases in the K'Ho population were G6PD Viangchan, suggesting that they were very close to Southeast Asian populations such as the Khmer in Cambodia and the Lao in Laos. It is interesting that G6PD Mahidol (487G>A), another common variant in continental Southeast Asian populations in Myanmar, Thailand, and Malaysia, has not been detected from the Vietnamese.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Molecular Identification of the Most Prevalent Mutations of Glucose-6-Posphate Dehydrogenase (G6PD) Gene in Deficient Patients in Khorasan Province of Iran

Glucose-6-phosphate dehydrogenase (G6PD) enzyme catalyses the first step in pentose phosphate pathway (conversion of glucose-6-phosphat to 6-phospho gluconat) which provides cells with pentoses and reduction power in the form of NADPH. In the present study we have analyzed the G6PD gene mutations in 76 patients with a history of favism in Khorasan province in Iran. DNA samples were analyzed for...

متن کامل

SPREAD OF THE GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANT (G6PD-MEDITERRANEAN) IN ONE OF THE COASTAL PROVINCES OF CASPIAN SEA IN IRAN

In order to explore the nature of glucose-6-phosphate dehydrogenase (G6PD) deficiency in one of the coastal provinces of the Caspian Sea (Mazandaran) in Iran, we have analysed the G6PD gene in 74 unrelated G6PD-deficient males (2-6 year children) with a history of Favism, by using PCR and subsequent digestion by appropriate restriction enzymes, looking for the presence of certain known mutation...

متن کامل

A Philippino glucose-6-phosphate dehydrogenase variant (G6PD Union) with enzyme deficiency and altered substrate specificity.

I NVESTJGATIONS OF RED CELL GLUCOSE-6-PHOSPHATE DEHYDROGENASE ( D-glucose-6-phosphate: NADP oxidoreductase, EC 1.1.1.49; G6PD ) in different human populations have shown that more than 50 variants exist at this time.1’2 Genetic studies are compatible with X-linkage of all G6PD variants. Some variants are associated with normal enzyme activity and therefore are not accompanied by any clinical ma...

متن کامل

Drug Induced Hemolytic Anemia and Glucose-6- Phosphate Dehydrogenase Variants in Malaria

Glucose-6-phosphate dehydrogenase deficiency is a common hemolytic genetic disorder, particularly in the areas endemic to malaria. The risk of drug induced Glucose-6-phosphate dehydrogenase deficiency related hemolysis depends on a number of factors including the Glucose-6-phosphate dehydrogenase variant. Aims: To know the G6PD deficiency and identify its variants in drug induced hemolysis in m...

متن کامل

MOLECULAR IDENTIFICATION OF THE MOST PREVALENT MUTATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) GENE IN DEFICIENT PATIENTS IN GILAN PROVINCE

Glucose-6-Phosphate Dehydrogenase (G6PD) is a cytosolic enzyme which its main function is to produce NADPH in the red blood cells by controlling the step from Glucose-6-Phosphate to 6-Phospho gluconate in the pentose phosphate pathway. G6PD deficiency is the most common X-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Acta medica Okayama

دوره 61 4  شماره 

صفحات  -

تاریخ انتشار 2007