Molecular Epidemiological Study on Human Hereditary Resistant Factors to Malaria

人类疟疾遗传性耐药因素的分子流行病学研究

• 批准号: 13576017
• 负责人: SHIRAKAWA Taku
• 金额: $ 8.7万
• 依托单位: Kobe University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2001
• 资助国家: 日本
• 起止时间: 2001 至 2003
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-13576017/
• 关键词: Malaria; G6PD Deficiency; α-Thalassemia; Southeast Asian Ovalocytosis; Hemoglobin Abnormality; Gene Analysis; G6PD

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.

对新加坡122例G6PD缺乏症新生儿黄褐斑进行了MPTP和直接测序法分析。结果在111例样本中发现G6PD基因外显子突变。在马来西亚的300份脐带血样本中，G6PD缺乏症和SAO的发生率分别为3.3%和4.8%。141例新生儿黄疸患者中65例诊断为G6PD缺乏症。远端肾小管性酸中毒(DRTA)患者SAO发生率(81.8%)明显高于正常成人(4%)。对尼泊尔3个不同地区的脐带血和外周血样进行了G6PD缺乏、卵细胞增多症、α-地中海贫血和β-珠蛋白基因异常的调查。加德满都谷地位于海拔1400米，是尼泊尔疟疾低度流行区。加德满都α-地中海贫血的发生率为20%，其他因素的发生率很低。雅普哈位于尼泊尔东南部，是疟疾的中等流行区。本地区α-地中海贫血发生率为15%。尼泊尔的大多数人，如婆罗门、切特里人、尼瓦尔人和蒙古族人生活在加德满都和贾巴。而居住在疟疾高发区的尼泊尔少数民族丹努瓦尔人，α-地中海贫血(75%)和G6PD缺乏症(3.1%)的患病率较高。这些结果表明，α-地中海贫血使达努瓦人适应疟疾感染，而尼泊尔几乎大多数人对疟疾几乎没有抵抗因素。

项目成果

Padilla C, et al.: "Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method : a pilot study on Filipino male newborns."Pediatric International. 45・1. 10-15 (2003)

Padilla C 等人：“使用改良的甲臜法筛查葡萄糖-6-磷酸脱氢酶缺乏症：针对菲律宾男性新生儿的初步研究”45・1（2003 年）。

Yusoff NM, et al.: "Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Malays in Malaysia."International Journal of Hematology. 76・2. 149-152 (2002)

Yusoff NM 等人：“马来西亚马来人葡萄糖-6-磷酸脱氢酶缺乏症的分子异质性”，《国际血液学杂志》76·2（2002 年）。

Kanji, Watanabe: "Bancroftian filariasis in Nepal : a survey for circulating antigenemia of Wuchereria bancrofti and urinary IgG4 antibody in two rural areas of Nepal."Acta Tropica. 88-1. 11-15 (2003)

Kanji, Watanabe：“尼泊尔的班克罗夫特丝虫病：尼泊尔两个农村地区班克罗夫特丝虫循环抗原血症和尿液 IgG4 抗体的调查。”《热带学报》。

Yusoff NM, et al.: "High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis."Journal of Human Genetics. 48・12. 650-653 (2003)

Yusoff NM 等人：“患有远端肾小管酸中毒的东南亚卵细胞增多症的患病率很高。”人类遗传学杂志 48・12（2003 年）。

Watanabe K, et al.: "Bancroftian filariasis in Nepal : a survey for circulating antigenemia of Wuchereria bancrofti and urinary IgG4 antibody in two rural areas of Nepal."Acta Tropica. 88・1. 11-15 (2003)

Watanabe K 等人：“尼泊尔班克罗夫特丝虫病：尼泊尔两个农村地区班克罗夫特丝虫循环抗原血症和尿 IgG4 抗体的调查”。《热带学报》88・1（2003 年）。