Genetic heterogeneity and cystic fibrosis
β Scribed by Garry R. Cutting
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 75 KB
- Volume
- 30
- Category
- Article
- ISSN
- 1059-7794
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In a survey by questionnaire of 572 families with one or more children affected with cystic fibrosis 72% were found to have received genetic counselling. The mode of inheritance was correctly known by only 45% and either not known or incorrectly known by the others. About 75% expressed the wish for
Cystic fibrosis (CF) is an autosomal recessive disease characterized by obstruction and chronic infections of the respiratory tract and pancreatic insufficiency. The gene was cloned in 1989 and the most frequent mutation was shown to be the delta F508 mutation. During PGD, embryos obtained in vitro