We have located links that may give you full text access.
EVALUATION STUDY
JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
Genetic Testing and Molecular Biomarkers 2012 April
Achondroplasia (ACH) is a genetic disorder with autosomal dominant inheritance and is the cause of one of the most common forms of short limb dwarfism in humans. Mutations of special sites in the fibroblast growth factor receptor-3 gene (FGFR3) are reported as a cause of ACH, and almost 98% of cases are caused by mutations in nucleotide 1138 (Gly380Arg), with 97% involving a c.1138G>A mutation and 1% involving a c.1138G>C mutation. Therefore, the development of a simple, reliable, and rapid approach for molecular detection of nucleotide 1138 mutations is of great significance for prevention and early diagnosis of ACH. High-resolution melting (HRM) is a new, rapid, and inexpensive molecular detection method that has been generally applied to mutation scanning. In this study, 12 cases of ACH, including 10 sporadic cases and 2 cases in a pedigree, were detected simultaneously using HRM analysis and restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR). Eleven cases were identified as carrying the c.1138 G>A heterozygous mutation, and one case was identified as carrying the c.1138 G>C heterozygous mutation. Compared with RFLP-PCR, HRM analysis provided a more rapid, simpler, and less expensive approach for detecting the most common FGFR3 mutations carried by patients with ACH.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app