Genetic epidemiology of single gene defects in Chile.
J Med Genet
; 31(9): 702-6, 1994 Sep.
Article
em En
| MEDLINE
| ID: mdl-7815439
We have studied the correlation between the ethnic structure and the prevalence of single gene defects in Chile. At present the Chilean population is approximately 64% white and 35% Amerindian with traces of other admixture. Fewer than 4% of the Chilean population are foreign born. Investigations indicate that all severe diseases and many others without impaired reproduction have mutation rates within the range of the white population. Classical ethnic diseases are very rare. Autosomal recessive disorders have a wide range of variability: cystic fibrosis has a low incidence and PKU has a similar incidence to English rates. Only 30% of the inborn errors of metabolism have been described in Chilean medical publications. In addition, no Chilean haemoglobin or haptoglobin variants have been described. Some rare inherited diseases in Chilean human isolates have been described, including achromatopsia, chondrocalcinosis, and Creutzfeldt-Jakob disease. The prevalence of intrahepatic cholestasis of pregnancy and supernumerary nipples is the highest in the world and they are associated with aboriginal origin. Single gene defects in Chile are probably shaped by factors related to its ethnic population structure. These local rare single gene defects may be good markers of population admixture for genetic epidemiological studies.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Genéticas Inatas
Tipo de estudo:
Prevalence_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Humans
País/Região como assunto:
America do sul
/
Chile
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
1994
Tipo de documento:
Article
País de publicação:
Reino Unido