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1.
Clin Genet ; 94(3-4): 346-350, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29756284

RESUMO

Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by the unstable expansion of a cytosine-adenine-guanine (CAG)/cytosine-adenine-adenine (CAA) repeat in the ATXN2 gene, which normally encodes 22 glutamines (Q22). A large study was conducted to characterize the CAG/CAA repeat intergenerational instability in SCA2 families. Large normal alleles (Q24-31) were significantly more unstable upon maternal transmissions. In contrast, expanded alleles (Q32-750) were significantly more unstable during paternal transmissions, in correlation with repeat length. Significant correlations were found between the instability and the age at conception in paternal transmissions. In conclusion, intergenerational instability at ATXN2 locus is influenced by the sex, repeat length and age at conception of the transmitting parent. These results have profound implications for genetic counseling services.


Assuntos
Fatores Etários , Ataxina-2/genética , Impressão Genômica , Instabilidade Genômica , Ataxias Espinocerebelares/genética , Repetições de Trinucleotídeos , Adulto , Alelos , Feminino , Humanos , Masculino
2.
Clin Genet ; 78(2): 169-74, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20095980

RESUMO

Previous studies have investigated the close association that exists between CAG repeat number and the age at onset in SCA2 = spinocerebellar ataxia type 2. These studies have focused on affected individuals. To further characterize this association and estimate the risk of a carrier developing SCA2 at a particular age as a function of a specific CAG repeat size, we have analyzed a large group of 924 individuals, including 394 presymptomatic and 530 affected individuals with a CAG repeat length of 32-79 units. Using a Kaplan-Meier survival analysis, we obtained cumulative probability curves for disease manifestation at a particular age for each CAG repeat length in the 34-45 range. These curves were significantly different (p < 0.001) and showed small overlap. All these information may be very valuable in predictive-testing programs, in the planning of studies for the identification of other genetic and environmental factors as modifiers of age at onset, and in the design of clinical trials for people at enlarged risk for SCA2.


Assuntos
Ataxias Espinocerebelares/epidemiologia , Adolescente , Adulto , Idade de Início , Idoso , Criança , Pré-Escolar , Cuba/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Ataxias Espinocerebelares/genética , Análise de Sobrevida , Expansão das Repetições de Trinucleotídeos/genética
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