Molecular screening of the neutrophil elastase gene in congenital neutropenia.
Congenital neutropenia is a rare hematopoietic disease, which occurs sporadically or as an auto-somal dominant inherited disorder. Pathogenesis of congenital neutropenia can now be attributed to mutations of the ELA2 gene encoding neutrophil elastase. A child with severe congenital neutropenia with a heterozygous mutation G1887A in exon 2 of ELA2 gene is reported.
Thomas
M
M
Department of Hematology, Christian Medical College, Vellore, Tamil Nadu, India.
Jayandharan
G
G
Chandy
M
M
D004252:DNA Mutational Analysis; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D006579:Heterozygote; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics*; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics*
D019272:Leukocyte Elastase