MOLECULAR BASIS FOR HEMOPHILIA B

目前这项提议的目标是克隆和测序人类 正常人和慢性阻塞性肺疾病患者的凝血因子IX基因 以确定血友病B的分子突变。 克隆将通过使用lambda载体来完成。核苷酸测序 将由Maxam-Gilbert方法确定，并通过各种分析方法进行分析 电脑程序。人类基因组DNA中限制性内切酶的多态性 对凝血因子IX基因座进行分析。这一分析将提供 关于血友病B基因突变的信息这些研究将使 可用的凝血因子IX基因。正常和有缺陷的产品的可用性 基因将有助于产前和产前诊断血友病B，还 帮助分离相关疾病的基因。

The objective of the current proposal is to clone and sequence the human Factor IX genes from both normal individuals and individuals suffering from hemophilia B in order to define the molecular mutations in hemophilia B. Cloning will be accomplished by using lambda vectors. Nucleotide sequenced will be determined by the Maxam-Gilbert method and analysed by various computer programs. The restriction endonuclease polymorphisms at the Factor IX gene locus will be analysed. This analysis will provide information on the mutations in hemophilia B. These studies will make the Factor IX genes available. The availability of both normal and defective genes will aid in prenatal and antenatal diagnosis of hemophilia B and also aid in the isolation of genes of related disorders.