A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 97-100, 2004.
Article
in Chinese
| WPRIM
| ID: wpr-329390
ABSTRACT
<p><b>OBJECTIVE</b>To identify the gene causing hereditary multiple exostoses in a Chinese pedigree.</p><p><b>METHODS</b>Linkage analysis was carried out in the family using microsatellite markers on chromosome 8, 11 and 19 respectively. To detect the mutation, the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced. The reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to amplify the mutated mRNA.</p><p><b>RESULTS</b>The disease-causing gene of the family was linked to the EXT2 locus on chromosome 11. A mutation IVS2+1G>A was detected in EXT2 and resulting in 221 bp deletion from 316 to 536 of coding sequence(CDS), which was co-segregated with the disease phenotype. This change led to deletion from codon 106 to codon 178 and subsequent 2 nucleotides, producing a frameshift and truncated protein of 125 aa.</p><p><b>CONCLUSION</b>The mutation IVS2+1G>A is the disease-causing mutation in the Chinese pedigree with hereditary multiple exostoses.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Exostoses, Multiple Hereditary
/
Genes, Tumor Suppressor
/
N-Acetylglucosaminyltransferases
/
Reverse Transcriptase Polymerase Chain Reaction
/
Genetics
/
Genetic Linkage
/
Mutation
Type of study:
Etiology study
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2004
Type:
Article
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