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


Ericson K., Fadeel B., Andersson M., Gudmundsson G., Gurgey A. , Yalman N., ...Daha Fazla

HUMAN GENETICS, cilt.112, sa.1, ss.98-99, 2003 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 112 Konu: 1
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1007/s00439-002-0841-0
  • Dergi Adı: HUMAN GENETICS
  • Sayfa Sayıları: ss.98-99

Özet

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.