Clinical characteristics and genetic mutation analysis in a Hui family with Huntington disease.
- Author:
Jing CHEN
1
;
Jing LEI
;
Xiao-ning ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Alleles; Asian Continental Ancestry Group; genetics; Base Sequence; China; Female; Gene Frequency; genetics; Humans; Huntingtin Protein; Huntington Disease; genetics; Male; Molecular Sequence Data; Mutation; genetics; Nerve Tissue Proteins; genetics; Nuclear Proteins; genetics; Pedigree; Phenotype; Trinucleotide Repeats; genetics
- From: Chinese Journal of Medical Genetics 2011;28(5):493-495
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo perform clinical analysis and gene diagnosis of Huntington disease (HD) in a Hui pedigree from Xinjiang.
METHODSThe IT15 gene mutation of the Hui family was analyzed by touchdown PCR, molecular cloning and gene sequencing.
RESULTSThe proband carried 46 CAG repeats. Pain in bilateral lower limb was the first symptom, followed by symptoms such as dance like involuntary movements, mood disorders, impaired memory and intelligence. Asymptomatic son of the proband carried 44 CAG repeats.
CONCLUSIONThis family showed reduced CAG trinucleotide repeats of IT15 gene during maternal transmission. A CAA variation is also detected within the CAG repeat region.
