Article
A haplotype framework for cystic fibrosis mutations in Iran.
The Journal of molecular diagnostics : JMD - 1 Feb 2006
Elahi Elahe, Khodadad Ahmad, Kupershmidt Ilya, Ghasemi Fereshteh, Alinasab Babak, Naghizadeh Ramin, Eason Robert G, Amini Mahshid, Esmaili Mehran, Esmaeili Dooki Mohammad R, Sanati Mohammad H, Davis Ronald W, Ronaghi Mostafa, Thorstenson Yvonne R
Abstract excerpt
This is the first comprehensive profile of cystic fibrosis transmembrane conductance regulator (CFTR) mutations and their corresponding haplotypes in the Iranian population. All of the 27 CFTR exons of 60 unrelated Iranian CF patients were sequenced to identify disease-causing mutations. Eleven core haplotypes of CFTR were identified by genotyping six high-frequency simple nucleotide polymorphisms. The carrier...
Topics
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Gene Frequency
- Haplotypes
- Heterozygote
- Humans
- Iran
- Mutation
- Polymorphism, Genetic