
To research on the reliability of diagnosing achondroplasia (ACH) on single cell level and to provide a basis for preimplantation genetic diagnosis(PGD).The high-frequency mutation region G380R of fibroblast growth factor receptor 3(FGFR3) gene was amplified by nested-PCR with single lymphocyte and single blastomere. The products of PCR were digested by restriction enzyme Bfm I, then the digested products were detected by 10% polyacrylamida gel electrophoresis(PAGE).The amplification success rate, allele dropout rate and correct diagnosis rate of single lymphocyte's PCR were 90.4%, 8.2% and 91.8%,respectively. The amplification success rate of single blastomere was 75.4%.The diagnosis of ACH by single cell nested-PCR is comparatively stable and reliable.
Molecular Diagnostic Techniques, DNA Mutational Analysis, Mutation, Humans, Receptor, Fibroblast Growth Factor, Type 3, Polymerase Chain Reaction, Sensitivity and Specificity, Preimplantation Diagnosis, Achondroplasia
Molecular Diagnostic Techniques, DNA Mutational Analysis, Mutation, Humans, Receptor, Fibroblast Growth Factor, Type 3, Polymerase Chain Reaction, Sensitivity and Specificity, Preimplantation Diagnosis, Achondroplasia
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