Intergeneration CAG expansion in a Wuhan juvenile-onset Huntington disease family / 神经科学通报·英文版
Neuroscience Bulletin
; (6): 198-202, 2007.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-300964
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To make early diagnosis of IT15 gene mutation in a Wuhan juvenile-onset Huntington disease (HD) family, for providing them with genetic counseling, and making preparation for the further research on pathogenesis and experimental therapy of HD.</p><p><b>METHODS</b>According to the principle of informed consent, we extracted genomic DNA from peripheral blood samples and carried genetic diagnosis of pathogenic exon 1 of IT15 gene by modified touchdown PCR and DNA sequencing methods.</p><p><b>RESULTS</b>Eight of twenty-five family members carried abnormal allele III(10), III(12), III(14), IV(3), and V(2) carried (CAG) (48), IV(11) and IV(12) carried (CAG) (67), and IV(14) carried (CAG) (63), in contrast with the 8-25 CAG trinucleotides in the members of control group. IV(14) carried 15 more CAG trinucleotides than her father III(10).</p><p><b>CONCLUSION</b>The results definitely confirm the diagnosis of HD and indicate the CAG trinucleotide repeat expansion of IT15 gene in this HD family. In addition, CAG expansion results in juvenile-onset and anticipation (characterized by earlier age of onset and increasing severity) of the patient IV(12).</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Genetic
/
Nuclear Proteins
/
Family Health
/
Sequence Analysis, DNA
/
Huntington Disease
/
Trinucleotide Repeat Expansion
/
Huntingtin Protein
/
Genetics
/
Methods
/
Nerve Tissue Proteins
Type of study:
Screening study
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
English
Journal:
Neuroscience Bulletin
Year:
2007
Document type:
Article