Isonimy analysis in a sample of parents of cystic fibrosis patients from Antioquia, Colombia

Abstract

Introduction. Cystic fibrosis (CTFR) is one of the most common autosomal recessive disorders in European descendants. Geographic distribution of CFTR gene mutations vary worldwide. Objective. The degree of isonimy was evaluated in a sample of parents with children affected by cystic fibrosis. Materials and methods. Observed and expected isonimy as well as endogamy components (Fr, Fn, Ft, and the values α and B) were calculated for 35 parents of children diagnosed with cystic fibrosis. These pa ameters were calculated for both the total population of Antioquia Province and for an eastern subpopulation of Antioquia. Results. The values obtained for Fr, Fn, Ft, α and B were 0.01, 0.007, 0.019, 268 and 0.44, respectively for the total populatio of Antioquia. For the eastern subpopulation, the values were 0.026, 0.0017, 0.027, 135 and 0.62. The most frequent last-names in the total sample (n=70) were Gómez (6%), Alzate (4%), and González (3.7 %), whilst for the eastern subpopula ion (n=32) were Gómez (8%) and Marín (6%). Conclusions. A high percentage of last-names was shared, as is refle ted in the isonimy values. Similarly, the presence of a reduced number of last-names in an important percentage of the popula ion is reflected in the Fr values obtained for both analyses, which suggest homogeneity. Thus, it is expected a low number of CFTR mutations in the children from Antioquia with cystic fibrosis.