Gene mutation detection in a cleidocranial dysplasia family / 中华口腔医学杂志
Chinese Journal of Stomatology
;
(12): 459-462, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-303468
ABSTRACT
<p><b>OBJECTIVE</b>To study gene mutation in Chinese patients with cleidocranial dysplasia.</p><p><b>METHODS</b>A three generation family with the clinical diagnosis of cleidocranial dysplasia was investigated in present study. Genomic DNA was extracted from peripheral blood samples of each of the family members. Direct sequencing of the PCR products of the coding region of CBFA1 gene was used to identify the mutations.</p><p><b>RESULTS</b>In each patient of the family, a heterozygous missense mutation, cDNA 674 G > A (R225Q), was detected in CBFA1 exon 3. The mutation changed the sequence in runt domain of the protein.</p><p><b>CONCLUSIONS</b>Our findings indicate that mutation in CBFA1 is responsible for the tooth agenesis and other phenotypes of cleidocranial dysplasia in this Chinese family. The mutation detection could be applied in prenatal diagnosis for the family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Exons
/
Cleidocranial Dysplasia
/
Odontodysplasia
/
Mutation, Missense
/
Asian People
/
Core Binding Factor Alpha 1 Subunit
/
Genetics
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Stomatology
Year:
2005
Type:
Article
Similar
MEDLINE
...
LILACS
LIS