Related Experiment Video
Updated: Aug 9, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Gene mutation analysis of a Chinese family with osteogenesis imperfecta]
Zhuo Wang1, Dong-liang Xu, Jun-yong Hu
1Department of Pathology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510080 P.R.China.
Objective:
To study the gene mutation of collagen, type I, alpha 1 (COL1A1) associated with the clinical characterization of a Chinese family with type I osteogenesis imperfecta (OI).
Methods:
Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to check all the members in the family with OI and 50 normal control people for detecting the mutation of COL1A1 gene.
Results:
A 2461G>A (G821S) mutation was found and identified in COL1A1 gene of OI patients, to whom the individual clinical characterization was displayed, however. And the other members in the family with OI and the control did not have such gene mutation as 2461G>A.
Conclusion:
The mutation of COL1A1 gene is one of the OI etiologic causes in China. There is no simple universal linkage between such gene changes and OI phenotype, but which not only involved in the OI genotype but the genetic background as well.
More Related Videos
09:20Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
Published on: December 18, 2019
12:49Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
Related Concept Videos
02:59Animal Mitochondrial Genetics
01:39Mutations
01:31Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:31Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:35Pedigree Analysis