Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses.
- Author:
Yong-an ZHOU
1
;
Yun-xia MA
;
Yong-hong ZHANG
;
Zi-qi HAO
;
Xue-jing LI
;
Yi-yu SHI
;
Quan-bin ZHANG
;
Peng-li LI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group; genetics; Base Sequence; Child; Child, Preschool; China; Exons; Exostoses, Multiple Hereditary; diagnosis; genetics; Female; Genotype; Humans; Introns; Male; Middle Aged; Mutation; N-Acetylglucosaminyltransferases; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2013;30(1):95-98
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo screen for potential mutations in an ethnic Han Chinese family from Shanxi with hereditary multiple exostoses.
METHODSPolymerase chain reaction and DNA sequencing were used to screen potential mutations in EXT1 and EXT2 genes.
RESULTSFor 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.
CONCLUSIONNo 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.
