STUDIES OF NORMAL AND ABNORMAL HUMAN FACTOR 1X GENES

人因子IX（圣诞因子）是一种单链糖蛋白（Mr = 56，000），参与血液凝固的中期阶段。 因子 IX缺乏症（圣诞病或血友病B）是一种遗传性疾病 是由异常的凝血因子IX基因引起的 为了理解这个机制 这种遗传性疾病，我们建议研究正常和异常的 人因子IX基因的分子基础上。 首先，我们计划阐明 正常基因的组织和完整的DNA序列。 一 正常因子IX基因的基因组克隆已经分离， 目前正在进行序列分析。 整个组织 因子IX的基因将通过核苷酸序列研究建立， 结合异源双链体的电子显微镜分析， 基因DNA分子及其cDNA或mRNA。 其次，我们计划 克隆许多异常的因子IX基因，并将其表征为 他们的DNA序列，以建立一个机制的障碍。 第三，我们将分析一些正常和异常的基因， 试图找到多态性特有的限制性片段，或 异常基因 这一发现可能使我们能够建立一个快速和 可靠的产前诊断因子IX缺乏症。

Human factor IX (Christmas factor) is a single-chain glycoprotein (Mr = 56,000) that participates in the middle phase of blood coagulation. Factor IX deficiency (Christmas disease or hemophilia B) is a hereditary disorder caused by an abnormal factor IX gene. In order to understand the mechanism of this hereditary disease, we propose to study the normal and abnormal human factor IX genes on a molecular basis. Firstly, we plan to elucidate the organization and the complete DNA sequence for the normal gene. A genomic clone for the normal factor IX gene has already been isolated and a sequence analysis is currently in progress. The entire organization of the gene for factor IX will be established by a nucleotide sequence study in combination with an electron microscopic analysis of the heteroduplex molecules of the gene DNA with its cDNA or mRNA. Secondly, we plan to clone a number of abnormal factor IX genes and characterize them as to their DNA sequences in order to establish a mechanism of the disorder. Thirdly, we will analyze a number of the normal and abnormal genes in an attempt to find a restriction fragment unique to polymorphism(s) or abnormal gene(s). This finding may enable us to establish a fast and reliable prenatal diagnosis for factor IX deficiency.