Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis

1 January 2003

journal article
Published by Springer Nature in Human Genetics

Vol. 112 (1) , 98-99
https://doi.org/10.1007/s00439-002-0841-0

Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder of immune regulation. Mutations in the gene encoding perforin were previously identified in a subset of FHL patients. The present analysis of two novel candidate genes, granzyme B and granulysin, by direct sequencing in a total of 16 FHL families, disclosed several sequence variations. However, none of these sequence variations were associated with the manifestations of FHL. These data do not support the notion that granulysin and granzyme B are candidate genes for FHL.

Keywords

SEQUENCE ANALYSIS
CANDIDATE GENE
AUTOSOMAL RECESSIVE

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