Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.
Blood Cells Mol Dis
; 33(3): 362-4, 2004.
Article
em En
| MEDLINE
| ID: mdl-15528158
ABSTRACT
Chitotriosidase is a human chitinase produced by macrophages. Its enzymatic activity is markedly elevated in serum of patients suffering from lysosomal storage disorders, as well as other diseases in which macrophages are activated. Therefore, it is a useful tool as a secondary marker in the diagnosis of several disorders including Gaucher disease type 1 and Niemann-Pick disease. The determination of chitotriosidase levels as a diagnosis complement in some lysosomal storage disorders and in enzyme replacement therapy follow-up of Gaucher disease patients is of great importance. However, the fact that a mutation caused by a 24-bp duplication in the CHIT1 gene resulting in deficiency of plasma chitotriosidase activity is very frequent makes the establishment of the frequency of this mutation in different population groups necessary. Furthermore, in order to validate the use of chitotriosidase activity as a marker, it is indispensable to screen individuals for this particular mutation. In this work, we present the results of a study where the allelic frequency of the above mentioned CHIT1 gene mutation was determined in the Portuguese population by real-time PCR. The frequency of carriers encountered in this sample of Portuguese individuals was of 37%.
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Base de dados:
MEDLINE
Assunto principal:
Doenças de Niemann-Pick
/
Doença de Gaucher
/
Frequência do Gene
/
Hexosaminidases
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article