Article
Identification of the COL2A1 mutation in patients with type I Stickler syndrome using RNA from freshly isolated peripheral white blood cells.
Genetic testing and molecular biomarkers - 1 Apr 2011
Yaguchi Hiromoto, Ikeda Takayuki, Osada Hiromi, Yoshitake Yoshino, Sasaki Hiroshi, Yonekura Hideto
Abstract excerpt
Stickler syndrome type I is caused by mutations in the type II collagen gene (COL2A1), which is specifically expressed in cartilage and vitreous humor. We developed a simple and noninvasive strategy for identifying the COL2A1 mutation using RNA from freshly isolated peripheral white blood cells and identified a new 3' splice site mutation in a Japanese family with Stickler syndrome. RNA was isolated from a...
Topics
- Adolescent
- Adult
- Arthritis
- Base Sequence
- Cloning, Molecular
- Collagen Type II
- Connective Tissue Diseases
- DNA, Complementary
- Family
- Hearing Loss, Sensorineural
- Humans
- Japan
- Leukocytes