Mutation analysis of the RUNX2 gene in a family with cleidocranial dysplasia / 华西口腔医学杂志
West China Journal of Stomatology
;
(6): 522-525, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-315919
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the mutations of the RUNX2 gene in a family with cleidocranial dysplasia (CCD).</p><p><b>METHODS</b>The general health status of family members with CCD was investigated through propositus verification method. Oral specialized examination and radiological examination were performed. The peripheral venous blood of the proband and her parents and sisters was collected. Genomic DNA was extracted, and the RUNX2 gene from this DNA was amplified by polymerase chain reaction (PCR). DNA sequences were analyzed with the Blastn program.</p><p><b>RESULTS</b>After Blastn analysis, heterozygous C to T transition mutation at nucleotide 568 occurred in exon 2, which converted arginine to tryptophane at codon 190 (c.568C>T, CGG-->TGG).</p><p><b>CONCLUSION</b>RUNX2 gene is responsible for the CCD in the Chinese family under study. The c.568C>T mutation is the molecular basis of the CCD in the family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
DNA Mutational Analysis
/
Base Sequence
/
Polymerase Chain Reaction
/
Exons
/
Cleidocranial Dysplasia
/
Asian People
/
Core Binding Factor Alpha 1 Subunit
/
Genetics
/
Mutation
Limits:
Humans
Language:
Chinese
Journal:
West China Journal of Stomatology
Year:
2013
Type:
Article
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