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南美洲厄瓜多尔的ΔF508突变。

The DeltaF508 mutation in Ecuador, South America.

作者信息

Paz-y-Miño C, Pérez J C, Burgos R, Dávalos M V, Leone P E

机构信息

Laboratorio de Genética Molecular y Citogenética Humana, Departamento de Ciencias Biológicas, Pontificia Universidad Católica del Ecuador, Quito, Ecuador.

出版信息

Hum Mutat. 1999;14(4):348-50. doi: 10.1002/(SICI)1098-1004(199910)14:4<348::AID-HUMU11>3.0.CO;2-8.

Abstract

There are few reports about the incidence of the DeltaF508 mutation in Latin American countries. We show the study of the DeltaF508 mutation and the seven most common "European" mutations in 10 Ecuadorian CF affecteds. The incidence of DeltaF508 mutation found was 25% and none of the other seven was detected in our population, which indicates that at least 60% of the mutations in the studied population are different from most common in Europe. Similar data have been reported in other Amerindian populations, therefore it is suggested that Cystic Fibrosis in Ecuador-and other Amerindian countries in Latin America-have a different ethiology than that of Caucasian populations.

摘要

关于拉丁美洲国家中DeltaF508突变发生率的报道很少。我们展示了对10名厄瓜多尔囊性纤维化患者的DeltaF508突变以及七种最常见的“欧洲”突变的研究。所发现的DeltaF508突变发生率为25%,在我们的研究人群中未检测到其他七种突变中的任何一种,这表明在该研究人群中至少60%的突变与欧洲最常见的突变不同。在其他美洲印第安人群体中也有类似的数据报道,因此有人提出,厄瓜多尔以及拉丁美洲其他美洲印第安国家的囊性纤维化病因与白种人群体不同。

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