Matsuoka Hiroyuki, Thuan Dang Thi Vinh, van Thien Huynh, Kanbe Toshio, Jalloh Amadu, Hirai Makoto, Arai Meiji, Dung Nguyen The, Kawamoto Fumihiko
Division of Medical Zoology, Department of Infection and Immunity, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan.
Acta Med Okayama. 2007 Aug;61(4):213-9. doi: 10.18926/AMO/32873.
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.
我们使用越南南部一家当地医院男性门诊患者的血样,对葡萄糖 - 6 - 磷酸脱氢酶(G6PD)缺乏症进行了一项调查。大多数样本来自京族(88.9%),这是越南最大的民族,少数样本(11.1%)来自赫蒙族、乔马族、侬族和岱依族等少数民族。我们在1104份样本中检测出25例G6PD缺乏症病例(2.3%),并对G6PD的开放阅读框进行了读取。在一名1岁的京族男孩中发现了一种新的突变(352T>C),预测氨基酸变化为118Tyr>His。尽管他没有表现出慢性溶血性贫血,但他的G6PD活性估计残留活性低于10%。因此,我们将这种变体归类为II类,并将其命名为G6PD保禄。在京族人群中,G6PD万象(871G>A、1311C>T、内含子11 nt93T>C)是东南亚大陆人群中最常见的变体之一,出现频率最高(6/19),其次是源自中国的变体,如G6PD广州(1376G>T)(5/19)、G6PD开平(1388G>A)(3/19)、G6PD高鹤(95A>G)(1/19)和G6PD清远(392G>T)(1/19)。此外,还检测到源自大洋洲的G6PD尤宁(1360C>T)(2/19)。这些发现表明,京族源自东南亚大陆、中国和大洋洲的各种祖先。相比之下,赫蒙族人群中的5例缺乏症病例均为G6PD万象,这表明他们与柬埔寨的高棉族和老挝的老龙族等东南亚人群关系非常密切。有趣的是,在越南人群中未检测到G6PD马希多尔(487G>A),这是缅甸、泰国和马来西亚等东南亚大陆人群中另一种常见的变体。