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

Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia:: G6PD Viangchan (871G>A) is the most common variant in the Cambodian population
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DOI:
10.1007/s10038-005-0279-z
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发表时间:
2005-09-01
影响因子:
3.5
通讯作者:
Kawamoto, F
Kawamoto, F
中科院分区:
生物学3区
文献类型:
--
作者:
Matsuoka, H;Nguon, C;Kawamoto, F

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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)检测进行了调查。采用手指刺血法采集了670人的血液标本。在这些人中,24.9%的人被发现患有疟疾,7.0%的人缺乏G6PD。在柬埔寨最大的少数民族高棉人中,男性G6PD缺乏率为12.6%(25/199),而少数民族Tum Pun和Cha Ray的缺乏率分别为1.1%(1/93)和3.2%(2/63)。G6PD缺陷者中,97.9%(46/47)为G6PD万灿(871G > A), G6PD联合(1360C > T)仅1例(2.1%)。根据我们之前的研究,由于G6PD Mahidol (487G > A)在缅甸很常见,目前的发现表明柬埔寨人口来自同质祖先,与缅甸人口不同。所有G6PD Viangchan病例都与G6PD基因中1311C > T和IVS-11 nt93T > C的另外两个突变有关。
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.