Huntington disease: DNA analysis in brazilian population
Arq. neuropsiquiatr
;
58(4): 977-85, Dec. 2000.
Article
in English
| LILACS
| ID: lil-273835
ABSTRACT
Huntington disease (HD) is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical findings suggestive of HD and 40 individuals from 6 putative HD families, showed a range from 7 to 33 repeats in normal subjects and 39 to 88 repeats in affected subjects. A trend between early age at onset of first symptoms and increasing number of repeats was seen. Major increase of repeat size through paternal inheritance than through maternal inheritance was observed. Data generated from this study may have significant implications for the etiology, knowledge of the incidence, diagnosis, prognosis, genetic counseling and treatment of HD Brazilian patients
Full text:
Available
Index:
LILACS (Americas)
Main subject:
DNA
/
Huntington Disease
/
Trinucleotide Repeat Expansion
Type of study:
Observational study
/
Prognostic study
/
Risk factors
Limits:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Arq. neuropsiquiatr
Journal subject:
Neurology
/
Psychiatry
Year:
2000
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Centro de Aconselhamento e Laboratório Genetika/BR
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