Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
Genet. mol. biol
;
27(3): 326-330, Sept. 2004. ilus, tab
Article
in English
| LILACS
| ID: lil-366174
ABSTRACT
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism (SSCP). Four different mutations were identified and, taken together, they comprise one nonsense substitution (Q1189X), one deletion (3525-3526delAA), one missense substitution (E1356G) and one mutation in the splice acceptor site (c.4111-1G>A). One novel polymorphism (c.4514+11C>G) and other three putative polymorphisms were also found (c.3315-27G>A, V1146I and V1317A). Genotype-phenotype correlations were investigated, but no particular association was detected.
Full text:
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Index:
LILACS (Americas)
Main subject:
Polymorphism, Genetic
/
Neurofibromatosis 1
/
GTPase-Activating Proteins
Limits:
Adult
/
Animals
/
Child
/
Humans
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2004
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Faculdade de Medicina de São José do Rio Preto/BR
/
Universidade Estadual Paulista/BR
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