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.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jul 10;37(7):755-758. doi: 10.3760/cma.j.issn.1003-9406.2020.07.013.
To analyze the clinical phenotype and genetic basis of a consanguineous pedigree affected with hereditary coagulation factor XII (FXII) deficiency.
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.
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.
The homozygous p.252delAsn deletion probably underlies the hereditary FXII deficiency in this pedigree.
分析一个患有遗传性凝血因子XII（FXII）缺乏症的近亲家系的临床表型和遗传基础。
提取基因组DNA后，对F12基因的所有外显子及其侧翼区域进行PCR扩增和桑格测序。使用ClustalX-2.1-win和MutationTaster软件分析变异的保守性及其对蛋白质功能的影响。
DNA测序显示，先证者在F12基因第9外显子中携带纯合的g.6753-6755delACA缺失（p.252delAsn），其父亲、母亲和哥哥为杂合携带者。其妹妹未发现相同缺失。
纯合的p.252delAsn缺失可能是该家系遗传性FXII缺乏症的病因。
