Charoenkwan Pimlak, Tantiprabha Watcharee, Sirichotiyakul Supatra, Phusua Arunee, Sanguansermsri Torpong
Southeast Asian J Trop Med Public Health. 2014 Jan;45(1):187-93.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common inherited enzymopathies in endemic areas of malaria including Southeast Asia. The molecular features of G6PD deficiency are similar among Southeast Asian population, with differences in the type of the prominent variants in each region. This study determined the prevalence and molecular characteristics of G6PD deficiency in northern Thailand. Quantitative assay of G6PD activity was conducted in 566 neonatal cord blood samples and 6 common G6PD mutations were determined by PCR-restriction fragment length polymorphism method on G6PD complete and intermediate deficiency samples. Ninety newborns had G6PD deficiency, with prevalence in male newborns of 17% and that of female newborns having an intermediate and complete deficiency of 13% and 2%, respectively. From 95 G6PD alleles tested, G6PD Mahidol, G6PD Kaiping, G6PD Canton, G6PD Viangchan, G6PD Union, and G6PD Chinese-5 was detected in 19, 17, 15, 13, 7, and 2 alleles, respectively. Our study shows that the prevalence of G6PD deficiency in northern Thai population is high and combination of the common Chinese mutations is the majority, a distribution different from central and southern Thailand where G6PD Viangchan is the prominent variant. These findings suggest a higher proportion of assimilated Chinese ethnic group in the northern Thai population.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是疟疾流行地区最常见的遗传性酶病之一，包括东南亚地区。东南亚人群中G6PD缺乏症的分子特征相似，但各地区主要变异类型存在差异。本研究确定了泰国北部G6PD缺乏症的患病率和分子特征。对566份新生儿脐带血样本进行了G6PD活性定量检测，并采用聚合酶链反应-限制性片段长度多态性方法对G6PD完全缺乏和中间缺乏样本检测了6种常见的G6PD突变。90名新生儿患有G6PD缺乏症，男性新生儿患病率为17%，女性新生儿中间缺乏和完全缺乏的患病率分别为13%和2%。在检测的95个G6PD等位基因中，分别检测到19个、17个、15个、13个、7个和2个G6PD Mahidol、G6PD开平、G6PD广州、G6PD万象、G6PD联合和G6PD中国-5等位基因。我们的研究表明，泰国北部人群中G6PD缺乏症的患病率较高，常见的中国突变组合占多数，这一分布与泰国中部和南部不同，在泰国中部和南部G6PD万象是主要变异类型。这些发现表明泰国北部人群中同化的华族比例较高。
