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Title: Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR
Authors: Rodrigues, M.R.
Sá Miranda, M.C.
Amaral, O.
Keywords: Genética Humana
Doenças Genéticas
Biological markers
Enzyme replacement therapy
Lysosomal storage disorders
Real-time PCR
Issue Date: Nov-2004
Publisher: Elsevier
Citation: Blood Cells Mol Dis. 2004 Nov-Dec;33(3):362-4
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 abovementioned 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%.
Peer review: yes
ISSN: 1079-9796
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Appears in Collections:DGH - Artigos em revistas internacionais

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