IL-2R-GAMMA GENE MICRODELETION DEMONSTRATES THAT CANINE X-LINKED SEVERE COMBINED IMMUNODEFICIENCY IS A HOMOLOG OF THE HUMAN-DISEASE

被引：100

作者：

HENTHORN, PS

SOMBERG, RL

FIMIANI, VM

PUCK, JM

PATTERSON, DF

FELSBURG, PJ

机构：

[1] UNIV PENN,SCH VET MED,DEPT CLIN STUDIES,IMMUNOL SECT,PHILADELPHIA,PA 19104

[2] NIH,NATL CTR HUMAN GENOME RES,BETHESDA,MD 20892

来源：

GENOMICS | 1994年 / 23卷 / 01期

关键词：

D O I：

10.1006/geno.1994.1460

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

X-linked severe combined immunodeficiency (SCID) is characterized by profound defects in cellular and humoral immunity and, in humans, is associated with mutations in the gene for the gamma chain of the IL-2 receptor (IL-2R gamma). We have examined this gene in a colony of dogs established from a single X-linked SCID carrier female. Affected dogs have a 4-bp deletion in the first exon of the IL-2R gamma gene, which precludes the production of a functional protein, demonstrating that the canine disease is a true homologue of human X-linked SCID. (C) 1994 Academic Press, Inc.

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页码：69 / 74

页数：6

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