title: Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.
abstract: The use of inbred patients whose exact genealogy may not be available is of primary interest in mapping genes involved in rare recessive diseases. We show here that this can be achieved by estimating inbreeding coefficients from the patients' genomic information and using these estimates to perform homozygosity mapping. We show the interest of the approach by mapping a gene for Taybi-Linder syndrome to chromosome 2q, with the use of a key patient with no genealogical information.
authors.affiliation: INSERM U535, BP 1000, Villejuif, France.
authors.forename: Anne-Louise
authors.initials: AL
authors.lastname: Leutenegger
authors.forename: Audrey
authors.initials: A
authors.lastname: Labalme
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Genin
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Steichen
authors.forename: Francoise
authors.initials: F
authors.lastname: Clerget-Darpoux
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
mesh_terms: D002889:Chromosomes, Human, Pair 2; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007178:Inbreeding; D008126:Lod Score; D013577:Syndrome