Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M
Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London, UK.
Nature. 1993 Jan 21;361(6409):226-33. doi: 10.1038/361226a0.
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.
X连锁无丙种球蛋白血症（XLA）是一种人类免疫缺陷病，由骨髓中的前B细胞无法发育为循环成熟B细胞所致。已分离出一个新基因，该基因定位于XLA位点，在B细胞中表达，且在患有该疾病的家族中显示出突变。该基因是原癌基因src家族的成员，src家族编码蛋白酪氨酸激酶。据我们所知，这是src相关基因的突变与人类遗传疾病有关的首个证据。
