| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-115 |
Sentence |
denotes |
An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. |
| T2 |
116-212 |
Sentence |
denotes |
Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. |
| T3 |
213-397 |
Sentence |
denotes |
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. |
| T4 |
398-625 |
Sentence |
denotes |
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. |
| T5 |
626-752 |
Sentence |
denotes |
Titration studies showed that the assay could reliably detect one copy of the mutant allele in a mix of 100 wild-type alleles. |
| T6 |
753-993 |
Sentence |
denotes |
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. |
| T7 |
994-1048 |
Sentence |
denotes |
We have observed complete concordance between methods. |
| T8 |
1049-1205 |
Sentence |
denotes |
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. |
