- Tytuł:
- Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene
- Autorzy:
-
Milewski, M
Bal, J
Bocian, E
Obersztyn, E
Mazurczak, T - Powiązania:
- https://bibliotekanauki.pl/articles/2047284.pdf
- Data publikacji:
- 1996
- Wydawca:
- Polska Akademia Nauk. Czytelnia Czasopism PAN
- Tematy:
-
inactivation
human disease
gene
X chromosome
mental retardation
clinical parameter
mental status
full mutation
cytogenetic parameter
molecular parameter
fragile X syndrome
amplification size - Opis:
- Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation. Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found. Possible explanations of this result are discussed. With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation. No such difference appeared when affected and normal females with full mutation were compared. The proportion of mutated active X chromosome was significantly higher in mentally retarded females than in those without any mental impairment.
- Źródło:
-
Journal of Applied Genetics; 1996, 37, 2; 205-215
1234-1983 - Pojawia się w:
- Journal of Applied Genetics
- Dostawca treści:
- Biblioteka Nauki
Artykuł