Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene
Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene
复制标题
人类凝血因子 XIII A 亚基基因的新多态性和单倍型
DOI：
10.1007/s004390050227
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发表时间：
1996
期刊：
影响因子：
5.3
通讯作者：
S. Ito
中科院分区：
文献类型：
--
作者：
K. Suzuki;J. Henke;M. Iwata;L. Henke;H. Tsuji;T. Fukunaga;G. Ishimoto;M. Székelyi;S. Ito
摘要本文报道了人凝血因子XIII A亚基（F13A）基因编码区的新多态性位点及其与其它多态性位点的单倍型组合。利用单链构象多态性分析，在外显子2、5、8、12和14中检测到多态性条带，并且多态性外显子的对立形式彼此连锁，共分离为不同的序列单倍型。在芬兰，德国和俄罗斯的人口中，共观察到18个单倍型的5个外显子的可能的72个单倍型组合。发现检测到的10个单倍型没有新的突变，而只是先前存在的突变的组合。在成对比较中没有观察到紧密相关的多态性外显子的对偶形式之间的组合，表明在F13A基因区域内可能存在重组热点。
Abstract Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism analysis and antithetic forms of the polymorphic exons were linked with each other, cosegregating as distinct sequence haplotypes. In Finnish, German, and Russian populations a total of 18 haplotypes were observed of possible 72 haplotypic combinations of the 5 exons. Ten of the haplotypes detected were found to have no novel mutations but to be only combinations of preexisting mutations. No tightly associated combinations in pairwise comparisons between antithetic forms of the polymorphic exons were observed, indicating that there may be recombinational hotspots within the F13A gene region.