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[Diagnosing achondroplasia by single cell nested-PCR].

Authors: Chang-gao, Zhong; Lu-yun, Li; Chang-fu, Lu; Ge, Lin; Jun-jiang, Fu; Ke-li, Luo; Guang-xiu, Lu;

[Diagnosing achondroplasia by single cell nested-PCR].

Abstract

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.

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Keywords

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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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
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