Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrom

• Autorzy: Milewski M. , Zygulska M. , Bal J. , Deelen W.H. , Obersztyn E. , Bocian E. , Halley D.J.J. , Horst J. , Mazurczak T.
• Języki publikacji: EN

Abstrakty

EN

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.

Słowa kluczowe

EN

DNA sequence; Poland; mutation; family; fragile X syndrome

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 1996
• Tom: 43
• Numer: 2
• Opis fizyczny: p.383-388,fig.

Twórcy

autor

Milewski M.

• Institute of Mother and Child, 01-211 Warsaw, Poland

autor

Zygulska M.

autor

Bal J.

autor

Deelen W.H.

autor

Obersztyn E.

autor

Bocian E.

autor

Halley D.J.J.

autor

Horst J.

autor

Mazurczak T.

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