CHARACTERIZATION OF GENES FOR HUMAN TYPE I COLLAGEN

I型胶原蛋白是皮肤的主要结构大分子， 超过85%的胶原蛋白含量。 类型综合中的abalanism 据报道，I型胶原在几种遗传性结缔组织疾病中 组织包括马凡氏综合征、埃勒斯-当洛斯综合征、成骨 皮肤拉克萨。 为了开发必要的工具， 在分子水平上研究这些疾病并了解细胞 调节胶原蛋白的生物合成，我们已经进行了分离， 胶原基因 I型胶原蛋白由两条多肽链组成， 是一种独立的基因产物。 我们从人类基因组中分离出 文库两个重叠的片段，包括大约一半的 pro alpha 2（I）的基因组。 我们建议分离和表征 整个pro α 2（I）基因以及pro α 1（I）基因。 一 这些基因的详细结构图将为我们提供背景 精确了解基因突变所需的信息， 遗传性结缔组织疾病 此外，我们建议建立 特异性单链探针，用于初始 转录RNA以及mRNA的细胞培养实验， 研究胶原合成调节。

Type I collagen is the major structural macromolecule of skin representing more than 85% of its collagen content. Abnormalities in synthesis of type I collagen have been reported in several inherited disorders of connective tissue including Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta and cutis laxa. In order to develop the tools necessary to study these diseases at a molecular level and understand the cellular regulation of collagen biosynthesis we have undertaken the isolation of collagen genes. Type I collagen is composed of two polypeptide chains each of which is a separate gene product. We have isolated from a human genomic library two overlapping fragments comprising approximately one half of the genome for pro alpha2(I). We proposed to isolate and characterize the entire pro Alpha2(I) gene as well as the gene for pro Alpha1(I). A detailed structural map of these genes will provide us with the background information needed to precisely understand structural gene mutations in inherited connective tissue disorders. In addition we propose to construct specific single stranded probes for hybridization measurements of initial transcript RNA as well as mRNA in cell culture experiments designed to investigate regulation of collagen synthesis.