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泰国北部泰族和孟高棉语族人群中α地中海贫血的患病率:一项基于人群的研究。

The prevalence of alpha-thalassemia amongst Tai and Mon-Khmer ethnic groups residing in northern Thailand: A population-based study.

作者信息

Lithanatudom Pathrapol, Khampan Pornnapa, Smith Duncan R, Svasti Saovaros, Fucharoen Suthat, Kangwanpong Daoroong, Kampuansai Jatupol

机构信息

a Department of Biology, Faculty of Science , Chiang Mai University , Chiang Mai 50202 , Thailand.

b Thalassemia Research Center, Institute of Molecular Biosciences , Mahidol University , Salaya , Nakhonpathom 73170 , Thailand.

出版信息

Hematology. 2016 Sep;21(8):480-5. doi: 10.1080/10245332.2016.1148374. Epub 2016 Mar 4.

Abstract

BACKGROUND

Northern Thailand is one of the highest α-thalassemia incidence areas where 30-40% of inhabitants have been reported to carry aberrant α-globin genes. However, all previous α-thalassemia prevalence surveys in northern Thailand have been undertaken without consideration of ethnicity. Here we report the prevalence of α-thalassemia genes in 4 Tai (Yong, Yuan, Khuen, Lue) and 4 Mon-Khmer speaking populations (Blang, Mon, Paluang, Lawa).

METHODS

DNA extracted from 141 individuals was genotyped for 4 α-thalassemia deletional types (--(SEA), --(THAI), -α(3.7), -α(4.2)) using MultiplexGap-PCR analysis and 2 non-deletional types (Hb CS, Hb Pakse) using dot-blot hybridization technique.

RESULTS AND DISCUSSION

A total of 33 α-thalassemia carrying individuals (23.4%) were detected of which 32 were heterozygotes and one was a homozygote. The most common α-thalassemia detected were -α(3.7) (17.7%) and --(SEA) (3.5%), while Hb CS was detected in 2.1% of cases. No occurrence of --(THAI), -α(4.2) and Hb Pakse was observed. The prevalence of α-thalassemia carriers varied between the different ethnic groups, with the Yuan having the highest prevalence of α-thalassemia carriers (50%) while the Lawa had the lowest prevalence (0%). The Paluang had a high prevalence (42%) of a single deletion type (-α(3.7)) possibly related to the endogamous marriage traditions of this ethnic group.

CONCLUSION

The extreme variation of α-thalassemia prevalence among the different ethnic groups highlights the significantly different genetic backgrounds found in these peoples, as consequences of dissimilar cultures. Our study suggests that ethnicity must be considered in any of the disease-causing allele prevalence surveys in this region.

摘要

背景

泰国北部是α地中海贫血发病率最高的地区之一,据报道该地区30%-40%的居民携带异常α珠蛋白基因。然而,此前泰国北部所有的α地中海贫血患病率调查均未考虑种族因素。在此,我们报告4个泰语群体(庸族、元族、昆族、卢族)和4个孟-高棉语群体(布朗族、孟族、巴朗族、拉瓦族)中α地中海贫血基因的患病率。

方法

采用多重缺口聚合酶链反应分析对141名个体提取的DNA进行4种α地中海贫血缺失型(--(SEA)、--(THAI)、-α(3.7)、-α(4.2))的基因分型,采用斑点杂交技术对2种非缺失型(Hb CS、Hb Pakse)进行基因分型。

结果与讨论

共检测到33例携带α地中海贫血的个体(23.4%),其中32例为杂合子,1例为纯合子。检测到的最常见的α地中海贫血类型为-α(3.7)(17.7%)和--(SEA)(3.5%),而2.1%的病例检测到Hb CS。未观察到--(THAI)、-α(4.2)和Hb Pakse的出现。不同种族群体中α地中海贫血携带者的患病率各不相同,元族中α地中海贫血携带者的患病率最高(50%),而拉瓦族的患病率最低(0%)。巴朗族单一缺失型-α(3.7)的患病率较高(42%),这可能与该种族群体的近亲结婚传统有关。

结论

不同种族群体中α地中海贫血患病率的极端差异凸显了这些人群中显著不同的遗传背景,这是不同文化的结果。我们的研究表明,在该地区任何致病等位基因患病率调查中都必须考虑种族因素。

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