Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment.
Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment.
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人因子 IX cDNA 的分离和表征：Taq I 多态性的鉴定和区域分配。
DOI：
10.1007/bf01534851
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发表时间：
1984
期刊：
影响因子：
--
通讯作者：
Warren,ST
中科院分区：
文献类型：
--
作者：
Jagadeeswaran,P;Lavelle,DE;Kaul,R;Mohandas,T;Warren,ST
血友病B或圣诞疾病是一种X连锁的疾病，由功能性凝血因子IX缺乏或降低引起。根据牛凝血因子IX的多肽序列，我们合成了一个17碱基对的寡核苷酸探针，用于筛选人肝脏的cDNA文库。经鉴定，重组克隆含有一个917个核苷酸的插入片段，其序列与人凝血因子IX编码区的70%相对应。该因子IX基因被用来探测限制性内切酶消化的人类DNA，以确定与基因组因子IX基因相关的Taq I多态，并验证该基因在每个单倍体基因组中只有一个拷贝。此外，还利用因子IX的cDNA将因子IX的基因座定位于Xq26-Xqter区域。人凝血因子IX基因的克隆、Taq I基因多态性的鉴定及其区域定位为血友病B的分子遗传学研究和与邻近基因座的连锁分析提供了手段。
Hemophilia B or Christmas disease is an X-linked condition caused by absent or reduced levels of functional coagulation factor IX. Based upon the peptide sequence of bovine factor IX, we synthesized a 17-base pair oligonucleotide probe to screen a human liver cDNA library. A recombinant clone was identified with a 917-nucleotide insert whose sequence corresponds to 70% of the coding region of human factor IX. This factor IX cDNA was used to probe restriction endonuclease digested human DNA to identify a Taq I polymorphism associated with the genomic factor IX gene as well as to verify that there is a single copy of this gene per haploid genome. The factor IX cDNA was also used to map the locus for factor IX to a region from Xq26 to Xqter. The cloning of human factor IX cDNA and identification of a Taq I polymorphism and its regional localization will provide a means to study the molecular genetics of hemophilia B and permit linkage analysis with nearby loci.