TY - JOUR
T1 - Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages
AU - Romeo, G.
AU - Menozzi, P.
AU - Ferlini, A.
AU - Fadda, S.
AU - Di Donato, S.
AU - Uziel, G.
AU - Lucci, B.
AU - Capodaglio, L.
AU - Filla, A.
AU - Campanella, G.
PY - 1983
Y1 - 1983
N2 - The frequency of consanguineous marriages up to second-cousin degree has been carefully established in the past for each of the 95 Italian provinces using the Archive of about 500,000 dispensations given by the Catholic curch for such marriages over a 55-year period. It has therefore been possible to compare the frequency of consanguineous marriages observed among 83 couples of parents of Friedreich patients with the frequency of consanguineous marriages of the same degree in the different Italian provinces during the same years. From these data, an estimate of the incidence of the disease has been obtained for the whole nation (between 1/22,000 and 1/25,000). In Southern Italy, where 16 out of the 18 consanguineous marriages among Friedreich parents are concentrated, the incidence of the disease is similar (between 1/25,000 and 1/28,000). This study indicates that the Archive of consanguinity existing in Italy allows a reliable comparison of the frequency of consanguineous marriages among parents with that of the general population. The same method can therefore be applied to the study of incidence of other autosomal recessive disorders in Italy.
AB - The frequency of consanguineous marriages up to second-cousin degree has been carefully established in the past for each of the 95 Italian provinces using the Archive of about 500,000 dispensations given by the Catholic curch for such marriages over a 55-year period. It has therefore been possible to compare the frequency of consanguineous marriages observed among 83 couples of parents of Friedreich patients with the frequency of consanguineous marriages of the same degree in the different Italian provinces during the same years. From these data, an estimate of the incidence of the disease has been obtained for the whole nation (between 1/22,000 and 1/25,000). In Southern Italy, where 16 out of the 18 consanguineous marriages among Friedreich parents are concentrated, the incidence of the disease is similar (between 1/25,000 and 1/28,000). This study indicates that the Archive of consanguinity existing in Italy allows a reliable comparison of the frequency of consanguineous marriages among parents with that of the general population. The same method can therefore be applied to the study of incidence of other autosomal recessive disorders in Italy.
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M3 - Article
C2 - 6859045
AN - SCOPUS:0020558195
VL - 35
SP - 523
EP - 529
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 3
ER -