Taisa Manuela B ... populacional Tese 2012.pdf - Arca - Fiocruz

esponsible for approximately 24% of cases of hereditary non-syndromic deafness and
all phenylketonuria cases, respectively. The mucopolysaccharidosis type VI is caused
by p.H178L mutation, the presence of this mutation only in Brazilian patients, who share
the same intragenic haplotype suggest an autochthonous origin. In addition to molecular
markers were also analyzed the types of marriages (endogamic, exogamous and
between immigrant) and how often they occur in the city. We observed a high frequency
of endogamic marriages and low migration rates, suggesting internal population growth.
The population of Monte Santo is characterized by division into villages, where the
majority of the population, the number of inhabitants varies from 113 to 582 people per
village. In this city 80% of the population has income equivalent to half the minimum
wage, which reinforces the absence of compelling economic and low migration rate.
Evaluating the marriages inside the genetic diseases pedigree families can be
observed that most of those affected are children of consanguineous parents.
These results suggest that the high degree of inbreeding as well as the occurrence
of founder effect and genetic drift were associated with increased frequency and
maintenance of genetic diseases in the city.
Key Words: migration, genetic disease, mitochondrial DNA, Y chromosome, Monte
Santo-BA, ancestry, types of marriages and population structure
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