Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis.
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.
Sulisalo
T
T
Department of Medical Genetics, University of Helsinki, Finland.
Sistonen
P
P
Hästbacka
J
J
Wadelius
C
C
Mäkitie
O
O
de la Chapelle
A
A
Kaitila
I
I
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
D005819:Genetic Markers