title: Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.
abstract: Cartilage-hair hypoplasia (CHH) is an autosomal recessive skeletal dysplasia of unknown pathogenesis leading to short-limbed stature. Associated features include hypoplasia of hair, abnormal cellular immunity, deficient erythrogenesis, increased risk of malignancies, Hirschsprung disease, and Diamond-Blackfan type hypoplastic anaemia. We mapped the CHH gene by linkage analysis with 5 markers to chromosome 9. Multipoint linkage analysis gives a lod score of 9.94 for a location between D9S43 and D9S50. Based on strong linkage disequilibrium the closest marker, D9S50, is likely to be less than 1 cM from the gene. No heterogeneity was observed in 14 Finnish families, nor was there evidence of reduced penetrance. These results provide a starting point for the eventual cloning and characterization of the CHH gene.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Sulisalo
authors.forename: P
authors.initials: P
authors.lastname: Sistonen
authors.forename: J
authors.initials: J
authors.lastname: Hästbacka
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
authors.forename: O
authors.initials: O
authors.lastname: Mäkitie
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: I
authors.initials: I
authors.lastname: Kaitila
mesh_terms: D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D015810:Linkage Disequilibrium; D008126:Lod Score; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005819:Genetic Markers