An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.

An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. Research Abstract Details 

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An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. Abstract Text:

Achondroplasia 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>A and c.1138G>C mutations and can successfully distinguish DNA samples that are homozygous and heterozygous for the c.1138G>A 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>A 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" laboratories.

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An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Molecular and cellular probes

VOLUME: 22

Page Numbers: 71-5

Journal Abbreviation: Mol. Cell. Probes

ISSN: 0890-8508

DAY: 27

MONTH: 06

YEAR: 2007

An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. Information

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LANGUAGE: eng

NlmUniqueID: 8709751

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Grant and Affiliation Information for An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.

AFFILIATION: BURC Molecular Diagnostic Laboratory, Vali Konagi Cad, 34365 Sisli, Istanbul, Turkey.

Country: England

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MEDLINETA: Mol Cell Probes

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