Molecular Epidemiological Study on Human Hereditary Resistant Factors to Malaria

对亚洲一些国家与疟疾抗性有关的遗传性红细胞疾病进行了调查，我们用MPTP和直接测序法分析了新加坡122例G6 PD缺乏症伴新生儿黄疸的样本。结果发现111例患者存在G6 PD基因外显子突变。在马来西亚，300份脐带血样本中，G6 PD缺陷和SAO的频率分别为3.3%和4.8%。141例新生儿黄疸中65例诊断为G6 PD缺乏症。远端肾小管性酸中毒（dRTA）患者SAO的发生率（81.8%）明显高于正常成人（4%）。这些结果表明，这些疾病已成为马来西亚的健康问题。G6 PD缺乏症，卵细胞增多症，α-地中海贫血和β-珠蛋白基因异常调查在尼泊尔的3个不同的地方，脐带血和外周血样本。加德满都山谷位于海拔1400米处，是尼泊尔疟疾低流行区。在加德满都，α-地中海贫血的频率为20%，其他因素的频率很低。位于尼泊尔东南部的贾法是一个中度疟疾流行区。本地区α-地中海贫血的发生率为15%.尼泊尔的婆罗门、切特里、尼瓦尔和蒙古人等大多数人居住在加德满都和贾帕。另一方面，生活在疟疾高发区的尼泊尔少数民族Danuwar的α-地中海贫血（75%）和G6 PD缺乏症（3.1%）患病率较高。这些结果表明，α-地中海贫血使Danuwar适应疟疾感染，而尼泊尔的大多数人几乎没有对疟疾的抵抗因素。

Inherited erythrocyte disorders related to malaria resistance were investigated in some Asian countries.We analyzed one hundred twenty two samples of the G6PD deficiency with neonatal jaundice in Singapore by MPTP and direct sequencing method. As the result, the mutations in the exon of G6PD gene were identified in 111 of the samples. By contrast, in other 11 samples, such mutations were not identified in the exon, nor in the promoter region.In Malaysia, G6PD deficiency and SAO were investigated with 300 cord blood samples and the frequency were 3.3% and 4.8%, respectively. Sixty-five patients out of 141 neonatal jaundice patients were diagnosed as G6PD deficiency. Incidence of SAO in patients with distal renal tubular acidosis (dRTA) was significantly higher (81.8%) compared with normal adults (4%). These results indicate that these disorders become to the health problem in Malaysia.G6PD deficiency, ovalocytosisi, α-thalassemia and β-globin gene abnormality were investigated with cord and peripheral blood samples in 3 different places in Nepal. Kathmandu valley located on the altitude of 1400m is a low malaria endemic area in Nepal. The frequency of α-thalassemia was 20 % and that of other factors were very low in Kathmandu. Japha located on southeast Nepal is a middle malaria endemic area. The frequency of α-thalassemia was 15 % in this area. The majority such as Brahmin, Chhetri, Newar and Mongolian in Nepal live in Kathmandu and Jhapa. On the other hand, Danuwar, a minority in Nepal, living in high malaria endemic area had high prevalence of α-thalassemia (75%) and G6PD deficiency (3.1%). These results suggest that α-thalassemia adapt Danuwar to malaria infection, whereas almost majority in Nepal have little resistant factors to malaria.