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Human Genetics in Ecuador

 

CURRENT SITUATION OF GENETICS IN ECUADOR AND PERSPECTIVES FOR FUTURE DEVELOPMENT

César Paz-y-Miño. Laboratorio de Genética Molecular y Citogenética Humana. Escuela de Biología. Facultad de Ciencias y Facultad de Medicina. Pontificia Universidad Católica del Ecuador. Apartado 17-1-2184. Quito-Ecuador. E-Mail: cpazymino@puceuio.puce.edu.ec.

 

DEMOGRAPHIC CHARACTERISTICS OF ECUADOR

Ecuador has a population of 12 million inhabitants. It is a developing country with an income per capita under 1.40 dollars/ inhabitant/ year. Ecuador has a general mortality rate of 4.8 / 100,000 inhabitants and a infant mortality rate of 35.3 / 1,000 inhabitants.

The most important ethnic groups are: mestizo ( product of interracial union between white spaniard and indian ), indian, ( high inbreeding), black, and white.

 

EPIDEMIOLOGY OF GENETIC DISEASES

The most important health problems in Ecuador  arise from the country's poor economy. Parasites, malnutrition and infection are among the most important causes of mortality. There has been an increase in genetic and degenerative illnesses lately. Genetic diseases affect about 3% of newborns. The most common problems are microtia, congenital hip displasia ( 4 to 6 times higher than in the rest of Latin America ), cardiopahies, chromosomopahies, cleft  lip and palate, neural tube defects, cryptorchidism. Among chromosome disorders, the most common ones  are autosomic recessive, followed by autosomic dominant and sex-linked diseases. Syndromes found in chromosomopathies have the same characteristics than those reported worldwide, except for mosaicism in Down Syndrome in young mothers, which is 9%.

Some possible explanations for this may include recessive non disjunction genes and the influence of high altitude ( hypoxia ). All the data has been recorded an the National Collaborative registry of Human Chromosome Alterations and Variants.

 

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