一例F12基因252delAsn纯合缺失所致的遗传性凝血因子Ⅻ缺陷症的家系分析  

Analysis of a pedigree affected with hereditary coagulation factorⅫdeficiency due to a homozygous 252delAsn deletion of F12 gene

作　　者：程晓丽 杨柳 辛毅娟 朱琳 苏明权 郝晓柯 Cheng Xiaoli;Yang Liu;Xin Yijuan;Zhu Lin;Su Mingquan;Hao Xiaoke(Clinical Laboratory,the First Affiliated Hospital of Air Force Medical University,Xi’an,Shaanxi 710032,China)

机构地区：[1]空军军医大学第一附属医院检验科,西安710032

出　　处：《中华医学遗传学杂志》2020年第7期755-758,共4页Chinese Journal of Medical Genetics

摘　　要：目的对1个近亲婚配的遗传性凝血因子Ⅻ(coagulation factor FⅫ,FⅫ)缺陷症家系进行临床表型和基因变异分析,探讨其分子致病机制。方法提取基因组DNA,Sanger测序法测定F12基因所有外显子及侧翼序列;采用ClustalX-2.1-win及MutationTaster软件分析变异位点氨基酸的保守性及对蛋白质功能的影响。结果Sanger测序结果显示先证者F12基因第9外显子存在g.6753-6755delACA纯合缺失变异,导致p.252delAsn;先证者父亲、母亲和弟弟均存在p.252delAsn杂合缺失变异;先证者妹妹为正常野生型。结论p.252delAsn纯合缺失变异是该近亲婚配家系遗传性FⅫ缺陷症的分子发病机制。Objective To analyze the clinical phenotype and genetic basis of a consanguineous pedigree affected with hereditary coagulation factorⅫ(FⅫ)deficiency.Methods Following extraction of genomic DNA,all exons and flanking regions of F12 gene were subjected to PCR amplification and Sanger sequencing.ClustalX-2.1-win and MutationTaster software was used to analyze the conservation and impact of the variants on protein function.Results DNA sequencing showed that the proband carried a homozygous g.6753-6755delACA deletion(p.252delAsn)in exon 9 of the F12 gene,for which her father,mother and brother were heterozygous carriers.The same deletion was not found in her sister.Conclusion The homozygous p.252delAsn deletion probably underlies the hereditary FⅫdeficiency in this pedigree.

关 键 词：凝血因子Ⅻ 缺失变异 家系 近亲结婚 

分 类 号：R596[医药卫生—内科学]