A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.
Publication/Presentation Date
1-1-1994
Abstract
A search for mutations in the gene for type II procollagen (COL2A1) was carried out in a family with late-onset spondyloepiphyseal dysplasia resulting in short sature, restricted mobility and severe pain in joints, deforming arthritis in the hips, and claudication. Analysis of the HindIII and VNTR polymorphisms at the COL2A1 gene in the family raised the possibility that the gene cosegregated with the disease. Screening for mutations in the COL2A1 gene using PCR-denaturing gradient get electrophoresis suggested a sequence variation in exon 19 of one allele of the COL2A1 gene in the proband. Direct sequencing of the PCR products for exon 19 revealed a single base mutation that converted the codon of -GGT- for glycine at alpha 1-247 to -AGT-, a codon for serine. The mutant that converted the present in all affected family members, but absent in nonaffected members and in a group of 50 unrelated healthy individuals. It was also absent in 20 unrelated patients with chondrodysplasia and 30 unrelated patients with early-onset osteoarthritis.
Volume
3
Issue
3
First Page
261
Last Page
267
ISSN
1059-7794
Published In/Presented At
Ritvaniemi, P., Sokolov, B. P., Williams, C. J., Considine, E., Yurgenev, L., Meerson, E. M., Ala-Kokko, L., & Prockop, D. J. (1994). A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia. Human mutation, 3(3), 261–267. https://doi.org/10.1002/humu.1380030314
Disciplines
Medicine and Health Sciences
PubMedID
8019561
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article