A 38 base pair insertion in the pro alpha 2(I) collagen gene of a patient with Marfan syndrome.
A 38 base pair insertion in the pro alpha 2(I) collagen gene of a patient with Marfan syndrome.
复制标题
马凡综合征患者的 pro alpha 2(I) 胶原蛋白基因中插入了 38 个碱基对。
DOI：
10.1002/jcb.240270210
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发表时间：
1985
影响因子：
4
通讯作者：
Kaufman,R
中科院分区：
文献类型：
--
作者：
Henke,E;Leader,M;Tajima,S;Pinnell,S;Kaufman,R
I型胶原蛋白的异常已经在许多结缔组织疾病中得到确认。马凡氏综合征是一种常染色体显性遗传病，在结缔组织中产生广泛性异常，尽管有一个人发现有延长的proa2(1)胶原链，但没有发现一致的异常[Byers等人，美国国家科学与科学杂志78:7745,19811]。为了确定产生这种异常的基因改变的性质，我们通过基因组印迹和基因克隆研究了该个体的proa2 (I)基因。基因组图谱研究未发现异常。然而，对来自Marfan个体的proa2 (I)胶原基因克隆片段的分析表明，该基因在胶原酶切割位点附近的内含子中含有38个碱基对插入。虽然这种插入与蛋白质异常的关系尚不清楚，但它可能是诊断马凡氏综合征的有用标记。
Abnormalities in type I collagen have been recognized in a number of connective tissue disorders. In the Marfan syndrome, an autosomal dominant condition producing a generalized abnormality in connective tissue, no consistent abnormality has been identified, although one individual has been found to have an elongated proa2 (1) collagen chain [Byers et al, Proc Natl Acad Sci USA 78: 7745, 19811. To determine the nature of the alteration in the gene that produced this abnormality, we studied the proa2 (I) gene from this individual by genomic blotting and gene cloning. Genomic mapping studies detected no abnormalities. However, analysis of the cloned segment of the proa2 (I) collagen gene from the Marfan individual indicates that the gene contains a 38 base pair insertion in an intron near the collagenase cleavage site. Although the relationship of this insertion to the protein abnormality is unclear, it may be a useful marker for the diagnosis of the Marfan syndrome.