Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes

Genetic Testing

Volumn 8, Issue 2, 2004, Pages 185-189

  Schrijver, Iris ^a,b   Lay, Marla J ^b   Zehnder, James L ^a,b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACHONDROPLASIA; ARTICLE; ASSAY; DNA SEQUENCE; GENOTYPE; HUMAN; HUMAN CELL; HYPOCHONDROPLASIA; MOLECULAR PROBE; PHENOTYPE; PRENATAL DIAGNOSIS; RAPID COMBINED GENOTYPING ASSAY; REAL TIME POLYMERASE CHAIN REACTION; RELIABILITY; SHORT STATURE;

ACHONDROPLASIA; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; MOLECULAR PROBES; POINT MUTATION; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 4143079142     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2004.8.185     Document Type: Article

References (10)

1. BELLUS, G.A., HEFFERON, T.W., ORTIZ DE LUNA, R.I., et al. (1995). Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am. J. Hum. Genet. 56, 368-373.
2. LAY, M.J., and WITTWER, C.T. (1997). Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR. Clin. Chem. 43, 2262-2267.
3. MATSUMURA, M., HIKIBA, Y., OGURA, K., et al. (2001). Rapid detection of mutations in the 23S rRNA gene of Helicobacter pylori that confers resistance to clarithromycin treatment to the bacterium. J. Clin. Microbiol. 39, 691-695.
4. PEREZ-CASTRO, A.V., WILSON, J., and ALTHERR, M.R. (1997). Genomic organization of the human fibroblast growth factor receptor 3 (FGFR3) gene and comparative sequence analysis with the mouse Fgfr3 gene. Genomics 41, 10-16.
5. PRINOS, P., COSTA, T., SOMMER, A., et al. (1995). A common FGFR3 gene mutation in hypochondroplasia. Hum. Mol. Genet. 4, 2097-2101.
6. SHIANG, R., THOMPSON, L.M., ZHU, Y.Z., et al. (1994). Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78, 335-342.
7. TSAI, F.J., TSAI, C.H., CHANG, J.G., et al. (1999). Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. Am. J. Med. Genet. 86, 300-301.
8. WALKER, R.A., SAUNDERS, N., LAWSON, A.J., et al. (2001). Use of a LightCycler gyrA mutation assay for rapid identification of mutations conferring decreased susceptibility to ciprofloxacin in multiresistant Salmonella enterica serotype Typhimurium DT104 isolates. J. Clin. Microbiol. 39, 1443-1448.
9. WILKIN, D., HECHT, J.T., and FRANCOMANO, C.A. (2001). Achondroplasia and pseudoachondroplasia. In The Metabolic & Molecular Bases of Inherited Disease, 8th ed., vol. III. C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle (eds.). McGraw Hill, New York.
10. WITTWER, C.T., RIRIE, K.M., ANDREW, R.V., et al. (1997). The LightCycler: a microvolume multisample fluorimeter with rapid temperature control. Biotechniques 22, 176-181