Cystic fibrosis?a single locus disease?
- 1 March 1987
- journal article
- conference paper
- Published by Springer Nature in Human Genetics
- Vol. 75 (3), 277-280
- https://doi.org/10.1007/bf00281074
Abstract
In a population genetics study of cystic fibrosis (CF), we investigated the state of health of 1276 first cousins of CF index patients. Six hundred seventy-five married aunts and uncles (siblings of CF index patients' mothers and fathers) who had at least one child were interviewed. In only 1 of these 675 families, three children of a total of eight had died of CF. If CF occurs more frequently than in 1 in 3000 newborn babies in our population, our investigation supports the hypothesis that CF is caused by mutations at more than one locus. We also determined that the evidence furnished by such a study of other, more uncommon autosomal recessive disorders is limited.Keywords
This publication has 7 references indexed in Scilit:
- Localization of cystic fibrosis locus to human chromosome 7cen–q22Nature, 1985
- A closely linked genetic marker for cystic fibrosisNature, 1985
- Phenotypic heterogeneity in cystic fibrosisAmerican Journal of Medical Genetics, 1982
- Familial occurrence of meconium ileusEuropean Journal of Pediatrics, 1981
- The incidence of cystic fibrosis in Caucasian populations.1978
- [Screening for cystic fibrosis by meconium studies in central laboratory--positive experiences of a pilot study].1977
- Research in Cystic FibrosisNew England Journal of Medicine, 1976