Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil)

被引：0
|
作者：
Succi, Isabella Brasil [1 ]
Porto, Luis Cristovao [2 ]
da Rocha Porto Domingues, Patricia Mariana Goncalves [3 ]
Macedo Fonseca, Joao Carlos [1 ]
机构：
[1] Univ Estado Rio De Janeiro, Hosp Univ Pedro Ernesto, Dept Dermatol, Rio De Janeiro, RJ, Brazil
[2] Univ Estado Rio De Janeiro, Policlin Piquet Carneiro, Lab Histocompatibil & Cryopreservat, Rio De Janeiro, RJ, Brazil
[3] Univ Estado Rio De Janeiro, Lab DNA Diagnoses, Rio De Janeiro, RJ, Brazil
来源：
ANAIS BRASILEIROS DE DERMATOLOGIA | 2018年 / 93卷 / 01期
关键词：
Porphyria cutanea tarda; Genetics; Genomics; Population characteristics;
D O I：
10.1590/abd1806-4841.20186666
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
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.
引用
收藏
页码：148 / 150
页数：3
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