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柬埔寨葡萄糖-6-磷酸脱氢酶(G6PD)突变:G6PD万象型(871G>A)是柬埔寨人群中最常见的变异型。

Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the most common variant in the Cambodian population.

作者信息

Matsuoka Hiroyuki, Nguon Chea, Kanbe Toshio, Jalloh Amadu, Sato Hiroko, Yoshida Shigeto, Hirai Makoto, Arai Meiji, Socheat Duong, Kawamoto Fumihiko

机构信息

Department of Medical Zoology, Jichi Medical School, 3311-1 Yakushij, Minami-kawachi, Tochigi, 329-0498, Japan.

National Malaria Center, Ministry of Health, Phnom Penh, Cambodia.

出版信息

J Hum Genet. 2005;50(9):468-472. doi: 10.1007/s10038-005-0279-z. Epub 2005 Sep 1.

Abstract

We conducted a survey of malaria diagnoses and glucose-6-phosphate dehydrogenase (G6PD) testing in remote areas of Cambodia. Blood specimens from 670 people were collected by the finger-prick method. Of these people, 24.9% were found to have malaria, and 7.0% of people were G6PD deficient. In the Khmer, the largest ethnical population in Cambodia, the G6PD deficiency rate of males was 12.6% (25/199) whereas the rates in the minorities of the Tum Pun and the Cha Ray were 1.1% (1/93) and 3.2% (2/63), respectively. Of the G6PD-deficient subjects, 97.9% (46/47) were G6PD Viangchan (871G>A), and only one case (2.1%) was G6PD Union (1360C>T). Since G6PD Mahidol (487G>A) is common in Myanmar according to our previous study, the current finding suggests that the Cambodian population is derived from homogeneous ancestries and is different from the Myanmar population. All G6PD Viangchan cases were linked to two other mutations of 1311C>T and IVS-11 nt93T>C in the G6PD gene.

摘要

我们对柬埔寨偏远地区的疟疾诊断和葡萄糖-6-磷酸脱氢酶(G6PD)检测进行了一项调查。通过手指采血法收集了670人的血样。在这些人中,发现24.9%的人患有疟疾,7.0%的人G6PD缺乏。在柬埔寨最大的民族高棉人中,男性G6PD缺乏率为12.6%(25/199),而通奔族和茶雷族等少数民族的缺乏率分别为1.1%(1/93)和3.2%(2/63)。在G6PD缺乏的受试者中,97.9%(46/47)为G6PD万象型(871G>A),只有1例(2.1%)为G6PD联合型(1360C>T)。根据我们之前的研究,G6PD马希多尔型(487G>A)在缅甸很常见,目前的研究结果表明柬埔寨人群起源于同一祖先,与缅甸人群不同。所有G6PD万象型病例均与G6PD基因中的另外两个突变1311C>T和IVS-11 nt93T>C相关。

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