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

被引：0

作者：

Kim Ericson

Bengt Fadeel

Mats Andersson

Gudmundur H. Gudmundsson

Aytemiz Gürgey

Nevin Yalman

Gritta Janka

Magnus Nordenskjöld

Jan-Inge Henter

机构：

[1] Childhood Cancer Research Unit,

[2] Department of Woman and Child Health,undefined

[3] Karolinska Institutet,undefined

[4] Stockholm,undefined

[5] Sweden,undefined

[6] Clinical Genetics Unit,undefined

[7] Department of Molecular Medicine,undefined

[8] CMM L8:02,undefined

[9] Karolinska Hospital,undefined

[10] S-171 76 Stockholm,undefined

[11] Sweden,undefined

[12] Division of Toxicology,undefined

[13] Institute of Environmental Medicine,undefined

[14] Karolinska Institutet,undefined

[15] Stockholm,undefined

[16] Sweden,undefined

[17] Department of Medical Biochemistry and Biophysics,undefined

[18] Karolinska Institutet,undefined

[19] Stockholm,undefined

[20] Sweden,undefined

[21] Microbiology and Tumorbiology Center,undefined

[22] Karolinska Institutet,undefined

[23] Stockholm,undefined

[24] Sweden,undefined

[25] Department of Pediatric Hematology,undefined

[26] Hacettepe University,undefined

[27] Ankara,undefined

[28] Turkey,undefined

[29] Department of Pediatric Oncology,undefined

[30] Istanbul School of Medicine,undefined

[31] Istanbul,undefined

[32] Turkey,undefined

[33] Department of Hematology and Oncology,undefined

[34] Children's University Hospital,undefined

[35] Hamburg,undefined

[36] Germany,undefined

来源：

Human Genetics | 2003年 / 112卷

关键词：

Sequence Analysis; Candidate Gene; Sequence Variation; Direct Sequencing; Gene Encode;

D O I：

暂无

中图分类号：

学科分类号：

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

页码：98 / 99

页数：1

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