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
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| WPRIM
| ID: wpr-300964
Biblioteca responsable:
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>
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Índice:
WPRIM
Asunto principal:
Polimorfismo Genético
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Proteínas Nucleares
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Salud de la Familia
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Análisis de Secuencia de ADN
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Enfermedad de Huntington
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Expansión de Repetición de Trinucleótido
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Proteína Huntingtina
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Genética
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Métodos
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Proteínas del Tejido Nervioso
Tipo de estudio:
Screening_studies
Límite:
Adult
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Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Neuroscience Bulletin
Año:
2007
Tipo del documento:
Article