A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 502-504, 2006.
Article
in En
| WPRIM
| ID: wpr-285091
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED).</p><p><b>METHODS</b>Denaturing high-performance liquid chromatography (DHPLC) analysis was performed on the whole seven coding exons and exon-intron boundaries, then the mutation was identified by direct sequencing.</p><p><b>RESULTS</b>Mutation screening of TGF beta1 in this patient revealed a heterozygous missense mutation R218H in exon 4.</p><p><b>CONCLUSION</b>The identification of the mutation could provide essential data for subsequent therapy and genetic counseling.</p>
Full text:
1
Index:
WPRIM
Main subject:
DNA Mutational Analysis
/
Base Sequence
/
China
/
Polymerase Chain Reaction
/
Chromatography, High Pressure Liquid
/
Camurati-Engelmann Syndrome
/
Transforming Growth Factor beta1
/
Genetics
/
Mutation
Type of study:
Prognostic_studies
Limits:
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Chinese Journal of Medical Genetics
Year:
2006
Type:
Article