PCR direct genomic sequencing of COL10A1 in a kindred with metaphyseal chondrodysplasia-Schmid type (MCDS)
- Univ. of Alabama, Birmingham (United States); and others
Type X collagen is a short chain nonfibrillar extracellular-matrix component that is specifically and transiently sythesized by hypertrophic chondrocytes at sites of endochondral ossification. Metaphyseal chondrodysplasia-Schmid type (MCDS) is an autosomal dominant disorder of the osseous skeleton. To date, seven mutations within the encoding type X collagen (COL10A1) gene have been described in MC. All the mutations described have been identified in the carboxyl-terminal noncollagenous domain, suggesting that the effect of these mutations is to impair the mutant polypeptide`s ability to participate in chain association and trimer formation. A 3 generation kindred with MCDS has been studied by amplifying an 831 base pair (bp) region of the COL10A1 gene which included the carboxyl-terminal domain. The PCR product was directly sequenced on eleven family members, 4 affected and 7 unaffected. No mutation was identified in the region studied. Analysis of other coding regions of type X collagen are currently under investigation. Mutations in the upstream coding regions, mutations that affect mRNA stability, or genetic heterogeneity are likely explanations for those MCDS cases without identified mutations.
- OSTI ID:
- 134738
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1476
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
Similar Records
Mutations within the gene encoding the alpha1(X) chain of type X collagen (COL10A1) occur in individuals with metaphyseal chondrodysplasia
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia