Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.
Am J Med Genet
; 44(4): 420-4, 1992 Nov 01.
Article
em En
| MEDLINE
| ID: mdl-1442879
ABSTRACT
Patients with pseudoachondroplasia have a skeletal dysplasia with marked short stature. The most common cause of this condition is an autosomal dominant mutation, although autosomal recessive inheritance has been reported. Linkage to 2 cartilage-specific candidate genes, type II collagen (COL2A1) and proteoglycan link protein genes (CRTL1), was tested in 9 autosomal dominant families with pseudoachondroplasia. Tight linkage to these candidate genes was excluded with LOD scores for COL2A1 of -2.45 at theta = 0.05 and for CRTL1 of -7.28 at theta = 0.001. Discordant inheritance of the disease phenotype with each of these genes was also observed. Thus, these 2 candidate genes can be excluded as the cause of disease in these families.
Buscar no Google
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Proteoglicanas
/
Colágeno
/
Nanismo
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1992
Tipo de documento:
Article