Article
CFTR haplotype backgrounds on normal and mutant CFTR genes.
Human molecular genetics - 1 Apr 1994
Cuppens H, Teng H, Raeymaekers P, De Boeck C, Cassiman J J
Abstract excerpt
Ten polymorphic loci, located in a 1 Mb interval across the cystic fibrosis locus, were analyzed on normal and mutant CFTR genes. A different distribution of haplotype backgrounds among normal and mutant CFTR genes was observed. With exception of the D7S8 locus, the three most common mutations, d...
Topics
- Alleles
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Gene Deletion
- Genes
- Haplotypes
- Humans
- Linkage Disequilibrium
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic
- Selection, Genetic
