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Literature DB >> 2210756

The haplotype distribution of the delta F508 mutation in cystic fibrosis families in Scotland.

I McIntosh¹, A Curtis, M L Lorenzo, M Keston, A J Gilfillan, G Morris, D J Brock.

Abstract

The gene defective in cystic fibrosis (CF) has recently been isolated and the major mutation identified. The haplotype distribution of this mutation (delta F508) has been determined for 215 CF chromosomes in the Scottish population. delta F508 represents 73% of all CF mutations in this group. There remains considerable linkage disequilibrium between XV2c and KM19 and other mutations in the CF gene.

Entities: Disease Mutation

Mesh：

Year: 1990 PMID： 2210756 DOI： 10.1007/bf02428290

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

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Cited

7 in total

1. Mutation analysis of 184 cystic fibrosis families in Wales.

Authors: J Cheadle; J Myring; L al-Jader; L Meredith
Journal: J Med Genet Date: 1992-09 Impact factor: 6.318

2. The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.

Authors: A E Shrimpton; I McIntosh; D J Brock
Journal: J Med Genet Date: 1991-05 Impact factor: 6.318

The haplotype distribution of the delta F508 mutation in cystic fibrosis families in Scotland.

1. Mutation analysis of 184 cystic fibrosis families in Wales.

2. The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.

3. The origin of Eastern European Jews revealed by autosomal, sex chromosomal and mtDNA polymorphisms.

4. Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

5. Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.

6. Association of less common cystic fibrosis mutations with a mild phenotype.

7. The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016