Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian Populations.
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ABSTRACT:
SUBMITTER: Da Silva-Jose TD
PROVIDER: S-EPMC4484898 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Dup-24 bp in the CHIT1 Gene in Six Mexican Amerindian Populations.
Da Silva-José T D TD Juárez-Rendón K J KJ Juárez-Osuna J A JA Porras-Dorantes A A Valladares-Salgado A A Cruz M M Gonzalez-Ibarra M M Soto A G AG Magaña-Torres M T MT Sandoval-Ramírez L L García-Ortiz José Elías JE
JIMD reports 20150513
Chitotriosidase (CHIT, EC 3.2.1.14) is an enzyme secreted by activated macrophages with the ability to hydrolyze the chitin of pathogens. The high activity of this enzyme has been used as a secondary biomarker of response to treatment in patients with Gaucher disease (OMIM 230800). Within the world's population, approximately 6% is homozygous and 35% is heterozygous for the most common polymorphism in the CHIT1 gene, a 24-bp duplication (dup-24 bp), with homozygosity of this duplication causing ...[more]
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