Format:
305 Seiten
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Illustrationen
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105 x 148 mm
Edition:
Mikrofiche-Ausgabe Lille Atelier national de reproduction des thèses$h2012 1 Mikrofiche
Series Statement:
Lille-thèses
Content:
La population à la base d ...
Content:
The population at the root of this study is composed of patients clinically diagnosed as suffering from cystic fibrosis and having lived in Brittany some time in the course of the past fifty years. Their ancestry was traced back with the help of genealogy centres and brought together more than 250 000 kinspeople. The resulting data base, built up from these patients' genetic and genealogical characteristics, was then used to study how the demographic patterns of the past could explain the frequency and geographical distribution of cystic fibrosis as it appears in today's Brittany. The carriers who share the same CF mutation are kindreds. The mapping of their common ancestors' living places shows a differential distribution, depending on specific CF mutations. These genetic relatednesses enable us to trace back the route followed by the CF gene. At the ancestors' level, we observed marital unions at an early age, particularly for women, and frequent remarriage, particularly for men. As a consequence, married couples were prolific, thus allowing more genetic transmissions. And the geographical stability that prevailed at the time of the wedding does not seem to produce genetic diversity. Moreover, we reckoned that in terms of life expectancy there might be some selective advantage to being a healthy carrier. Inbreeding - a cause frequently referred to as an explanation for the large number of CF affected patients in Brittany - was in no way a key factor in this study. Only 0,8 % were born from first or second cousin unions. At the ancestors' level, we must go back to the 7th generation to see a higher proportion of close kinship. Therefore, more often than consanguinity, endogamy tends to carry on a certain degree of genetic homogeneity. CF frequency of occurrence and its Breton distribution today can be accounted for by the presence of a harmful gene combined with high fertility, a relatively settled population with a limited availability of possible partners, and the selective advantage this harmful gene was for healthy carriers. This study helps to increase historical, geographical and social knowledge of CF throughout successive generations. lt enables us to have a collective more than individual approach of the CF mutation. lt also has t a prospective effect as a tool for the testing center and the staff
Note:
Bibliogr. p. 248-258
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Reproduction de : Thèse de doctorat : Sociologie-Démographie : Versailles-St Quentin en Yvelines : 2012
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Dissertation Université de Versailles-Saint-Quentin-en-Yvelines 2012
Additional Edition:
Erscheint auch als Druck-Ausgabe Hasard, coïncidence, prédestination… et s’il fallait plutôt regarder du côté de nos aïeux ? : analyse démographique et historique des réseaux généalogiques et des structures familiales des patients atteints de mucoviscidose en Bretagne / présentée par Nadine Palut Pellen [S.l.] : [s.n.], 2012
Language:
French
Keywords:
Hochschulschrift
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