THE GENE INVOLVED IN X-LINKED AGAMMAGLOBULINEMIA IS A MEMBER OF THE SRC FAMILY OF PROTEIN-TYROSINE KINASES
THE GENE INVOLVED IN X-LINKED AGAMMAGLOBULINEMIA IS A MEMBER OF THE SRC FAMILY OF PROTEIN-TYROSINE KINASES
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DOI：
10.1038/361226a0
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发表时间：
1993-01-21
期刊：
影响因子：
64.8
通讯作者：
BENTLEY, DR
中科院分区：
文献类型：
--
作者：
VETRIE, D;VORECHOVSKY, I;BENTLEY, DR
X连锁无丙种球蛋白血症（XLA）是一种由骨髓中的前B细胞不能发育成循环成熟B细胞引起的人类免疫缺陷。已经分离出一种新的基因，其定位于XLA基因座，在B细胞中表达，并在患有该疾病的家族中显示突变。该基因是编码蛋白酪氨酸激酶的原癌基因src家族的成员。据我们所知，这是src相关基因突变与人类遗传疾病有关的第一个证据。
X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder. The gene is a member of the src family of proto-oncogenes which encode protein-tyrosine kinases. This is, to our knowledge, the first evidence that mutations in a src-related gene are involved in human genetic disease.