A CA repeat in the first intron of the CFTR gene.

doi:10.1159/000154427

Back to search

Article

A CA repeat in the first intron of the CFTR gene.

Human heredity - 1 Jan 2000

Moulin D S, Smith A N, Harris A

Abstract excerpt

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, that encompasses 250 kb of genomic DNA, cause cystic fibrosis. More than 5-10% of CF patients in most populations studied carry undefined mutations and hence intragenic CA repeats are important tools in genetic coun...

Topics

Alleles
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
Dinucleotide Repeats
Family Health
Gene Frequency
Genes
Heterozygote
Humans
Introns
Polymorphism, Genetic

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.