Related Experiment Video
Updated: Aug 13, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia]
1Laboratory of Genetics, The Second Clinical College,China Medical University, Shenyang, Liaoning 110003 P. R. China.
Objective:
To evaluate whether mutation in the exon 10 of the fibroblast growth factor receptor 3(FGFR3) gene in common in Chinese patients with achondroplasia.
Methods:
Genomic DNA from seven sporadic cases of achondroplasia was studied by using PCR-SSCP and restriction enzymes.
Results:
All patients carried the same glycine-to-arginine mutation at codon 380(G380R) of the transmembrane domain of FGFR3.
Conclusion:
The results suggest that the G380R mutation of FGFR3 is also a frequent mutation causing achondroplasia in Chinese. Detecting FGFR 3 gene mutation with PCR-SSCP and restriction enzymes analysis is a convenient, rapid and reliable molecular diagnostic assay for prenatal and early diagnosis of achondroplasia.
More Related Videos
08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Published on: September 16, 2019
10:28Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
Published on: April 3, 2021
Related Concept Videos
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:09Introduction to Fibroblasts