Type 2 Procollagen Gene Mutation in Osteoarthritis

Kim, Tae Hwan; Hong, Kwan Pyo; Jun, Jae Bum; Jung, Sung Soo; Lee, In Hong; Bae, Sang Cheol; Yoo, Dae Hyun; Lee, Eun Young; Chang, Sung Yeoul; Kim, Seong Yoon

Abstract

OBJECTIVES
Human osteoarthritis is a heterogeneous and multifactorial disease characterized by the progressive deterioration of the cartilage of diarthrodial joints. In some instances, there is an identifiable cause, such as trauma or congenital malformation, but, mostly the etiology remains unknown. Since familial aggregation is seen, genetic factors may be important, particularly in osteoarthritis of the hand.
METHODS
Blood samples from patients and controls were obtained for DNA analysis. Exon 31 of type II procollagen gene was amplified by polymerase chain reaction, and screening for the mutation was undertaken using a restriction enzyme digestion (Dsa I).
RESULTS
The patients phenotype represented typical, but earlyonset and family history, osteoarthritis. No mutation in exon 31 of type II procollagen gene could be identified.
CONCLUSION
Screening of the 31 exon did not, however, reveal any mutation. It needs further evaluation in other sites of type II procollagen genes.