Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.
Acta Biochim Pol
; 43(2): 383-8, 1996.
Article
em En
| MEDLINE
| ID: mdl-8862184
ABSTRACT
The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of clinical features and expression of the fragile site at X(q27.3) a large expansion of the unstable sequence (full mutation) was detected. About 5% (2 of 43) of individuals with full mutation did not express the fragile site. Among normal alleles, ranging in size from 20 to 41 CGG repeats, allele with 29 repeats was the most frequent (37%). Transmission of premutated and fully mutated alleles to the offspring was always associated with size increase. No change in repeat number was found when normal alleles were transmitted.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Análise Mutacional de DNA
/
Proteínas de Ligação a RNA
/
Síndrome do Cromossomo X Frágil
/
Proteínas do Tecido Nervoso
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Acta Biochim Pol
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Polônia