Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 95-98, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-232196
ABSTRACT
<p><b>OBJECTIVE</b>To screen for potential mutations in an ethnic Han Chinese family from Shanxi with hereditary multiple exostoses.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used to screen potential mutations in EXT1 and EXT2 genes.</p><p><b>RESULTS</b>For EXT1 gene, two synonymous mutations (P477P and E587E), three intronic mutations (c.1537 -48A>G, c.1721 +203A>G and c.1722 -103C>G) were detected. For EXT2 gene, five intronic mutations (c.-29 -148A>T, c.1080 -18T>A, c.1336 -93C>T, c.1526 -166C>T, and c.1526 -195C>T) were identified. Among these, EXT1 P477P, EXT1 E587E and EXT2 c.1080 -18T>A are polymorphisms listed by Multiple Osteochondroma Mutation Database, whilst the other 7 sites have not been reported.</p><p><b>CONCLUSION</b>No mutations have been found among all exons of the EXT1 and EXT2 genes in this family. Linkage analysis is necessary for identifying the cause of this disease.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Base Sequence
/
Introns
/
China
/
Exostoses, Multiple Hereditary
/
Exons
/
N-Acetylglucosaminyltransferases
/
Asian People
/
Diagnosis
/
Genetics
/
Genotype
Type of study:
Diagnostic study
/
Screening study
Limits:
Adolescent
/
Adult
/
Aged
/
Aged80
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article
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