Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.
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.
Leutenegger
Anne-Louise
AL
INSERM U535, BP 1000, Villejuif, France.
Labalme
Audrey
A
Genin
Emmanuelle
E
Toutain
Annick
A
Steichen
Elisabeth
E
Clerget-Darpoux
Francoise
F
Edery
Patrick
P
D002889:Chromosomes, Human, Pair 2; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007178:Inbreeding; D008126:Lod Score; D013577:Syndrome