Type 2 Procollagen Gene Mutation in Osteoarthritis.
- Author:
Tae Hwan KIM
;
Kwan Pyo HONG
;
Jae Bum JUN
;
Sung Soo JUNG
;
In Hong LEE
;
Sang Cheol BAE
;
Dae Hyun YOO
;
Eun Young LEE
;
Sung Yeoul CHANG
;
Seong Yoon KIM
- Publication Type:Original Article
- Keywords:
Osteoarthritis;
Restriction fragment length polymorphism (RFLP);
Type II procollagen gene
- MeSH:
Cartilage;
Collagen Type II;
Digestion;
DNA;
Exons;
Hand;
Humans;
Joints;
Mass Screening;
Osteoarthritis*;
Phenotype;
Polymerase Chain Reaction;
Procollagen*
- From:The Journal of the Korean Rheumatism Association
1997;4(1):27-32
- CountryRepublic of Korea
- Language:Korean
-
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.
