Diagnosing achondroplasia by single cell nested-PCR / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 228-231, 2003.
Article
in Zh
| WPRIM
| ID: wpr-248453
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To research on the reliability of diagnosing achondroplasia (ACH) on single cell level and to provide a basis for preimplantation genetic diagnosis(PGD).</p><p><b>METHODS</b>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).</p><p><b>RESULTS</b>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%.</p><p><b>CONCLUSION</b>The diagnosis of ACH by single cell nested-PCR is comparatively stable and reliable.</p>
Full text:
1
Index:
WPRIM
Main subject:
Achondroplasia
/
DNA Mutational Analysis
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Polymerase Chain Reaction
/
Sensitivity and Specificity
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Preimplantation Diagnosis
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Molecular Diagnostic Techniques
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Diagnosis
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Receptor, Fibroblast Growth Factor, Type 3
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Genetics
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Methods
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2003
Type:
Article