Familial Early-Onset Osteoarthritis：Genetic Diagnosis and Counseling
Date Issued
2007
Date
2007
Author(s)
Lee, Rung-Shan
DOI
zh-TW
Abstract
Objective: Osteoarthritis (OA) is a very common human joint disease. Currently, we have discovered two families with Familial Early-Onset Osteoarthritis. Looking at the pedigree, one discovers the genetic model conforms to autosomal dominant inheritance of Mendel's Laws of Inheritance. This study aims to build a consultation platform for the genetic diagnosis and inheritance of Taiwan’s Familial Early-Onset Osteoarthritis by investigating whether there is mutation of the COL2A1 gene. If this model can successfully and accurately detect the disease causing gene, patients with similar situation can be given a genetic test and then the appropriate medical intervention and hereditary consultation in the future.
Methods: We have collected the DNA of leukocytes from the 23 members of the two families with Familial Early-Onset Osteoarthritis. The specimens of the subjects are then subjected to PCR and DNA sequencing to analyze the exon region of the COL2A1 gene.
Result: In one family, 3689G→A transition is present in exon 50 of the COL2A1 gene in all 8 family members tested to have OA. In the other four family members without OA, 3689G mutation does not exist in exon 50 of the COL2A1 gene. This results in codon change of Gly1170Ser. The location is in the GXY repeat region of Type II collagen.
Conclusions: The results of this study and the study done by National Yang Ming University found that the mutation in the three families studied occurred in the same region. This may be related to Founder effect. It is evident that in Taiwan, for families with familial arthritis problems, 3689G→A of the COL2A1 gene is involved to a certain degree. Therefore, we wish to use this study as a foundation to build the genetic diagnosis and hereditary consultation platform for Familial Early-Onset Osteoarthritis and avascular necrosis of the femoral head. Patients with similar situations can then undergo genetic testing and hereditary consultation. Thus, we hope families with history of the disease can bid farewell to the family curse.
Subjects
骨關節炎
遺傳診斷
第二型膠原
Osteoarthritis
Genetic Diagnosis
COL2A1
SDGs
Type
other
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