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

被引:23
作者
Ericson, KG
Fadeel, B
Andersson, M
Gudmundsson, GH
Gürgey, A
Yalman, N
Janka, G
Nordenskjöld, M
Henter, JI
机构
[1] Karolinska Hosp, Clin Genet Unit, Dept Mol Med, S-17176 Stockholm, Sweden
[2] Karolinska Inst, Dept Woman & Child Hlth, Childhood Canc Res Unit, S-10401 Stockholm, Sweden
[3] Karolinska Inst, Div Toxicol, Inst Environm Med, S-10401 Stockholm, Sweden
[4] Karolinska Inst, Dept Med Biochem & Biophys, S-10401 Stockholm, Sweden
[5] Karolinska Inst, Ctr Microbiol & Tumor Biol, S-10401 Stockholm, Sweden
[6] Hacettepe Univ, Dept Pediat Hematol, Ankara, Turkey
[7] Istanbul Sch Med, Dept Pediat Oncol, Istanbul, Turkey
[8] Childrens Univ Hosp, Dept Hematol & Oncol, Hamburg, Germany
关键词
Sequence Analysis; Candidate Gene; Sequence Variation; Direct Sequencing; Gene Encode;
D O I
10.1007/s00439-002-0841-0
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:98 / 99
页数:2
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