PubMed:17683901 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/17683901","sourcedb":"PubMed","sourceid":"17683901","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/17683901","text":"An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.\nAchondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide position 1138 (p.G380R) of the fibroblast growth factor receptor 3 (FGFR3) gene. We have developed a sensitive single tube tetra-primer PCR assay to detect both the c.1138G\u003eA and c.1138G\u003eC mutations and can successfully distinguish DNA samples that are homozygous and heterozygous for the c.1138G\u003eA mutation. Titration studies showed that the assay could reliably detect one copy of the mutant allele in a mix of 100 wild-type alleles. The assay has been tested in 50 healthy controls, 3 known patients with achondroplasia, and 5 amniotic fluids suspected of having achondroplasia and for whom we had previously determined the genotypes for the c.1138G\u003eA mutation by PCR-RFLP. We have observed complete concordance between methods. Our tetra-primer PCR assay is sensitive, low-cost, and easy to use method for FGFR3 p.G380R genotyping, which could be used even in \"low-tech\" 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