一个种族混合国家迟发性皮肤卟啉症患者的遗传血统：一项横断面研究（巴西里约热内卢）
Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil).
作者信息
Succi Isabella Brasil, Pôrto Luís Cristóvão, Domingues Patricia Mariana Gonçalves da Rocha Porto, Fonseca João Carlos Macedo
机构信息
Department of Dermatology, Hospital Universitário Pedro Ernesto - Universidade do Estado do Rio de Janeiro (UERJ) - Rio de Janeiro (RJ), Brazil.
Laboratory of Histocompatibility and Cryopreservation - Policlínica Piquet Carneiro - Universidade do Estado do Rio de Janeiro (UERJ) - Rio de Janeiro (RJ), Brazil.
出版信息
An Bras Dermatol. 2018 Jan-Feb;93(1):148-150. doi: 10.1590/abd1806-4841.20186666.
Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.
迟发性皮肤卟啉症病因复杂，遗传因素尚未完全阐明。巴西人群的混血情况对疾病易感性有重要影响。目前尚无关于来自混合人群的迟发性皮肤卟啉症患者遗传血统的研究。对居住在里约热内卢的30例散发性迟发性皮肤卟啉症患者，通过信息性标记——插入缺失（INDELS）研究其遗传血统。在迟发性皮肤卟啉症患者样本中，欧洲血统占显著优势（70.2%），非洲和美洲印第安血统的贡献较小，分别为20.1%和10.9%。
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