遗传性凝血因子XIII缺陷症基因突变的检测

Gene mutation detection for hereditary coagulation factor XIII deficiency

目的研究一例遗传性凝血因子XIII(FXIII)缺陷症家系的基因缺陷。方法采用PCR、核苷酸测序的方法对该家系先证者及其家属外周血白细胞基因组DNA的FXIIIA基因进行检测。结果先证者第72045位缺失两个核苷酸A,位于外显子5;先证者的父母及先证者的姐姐分别在DNA水平相同位点呈杂合缺失。结论这例遗传性凝血因子FXIII缺陷症是由于FXIIIA基因缺陷造成。

Objective To study gene defect of a hereditary coagulation factor ⅩⅢ deficiency family.Methods PCR and gene sequencing were used to detect the FⅩⅢA gene of peripheral white blood cell from a hereditary coagulation factor ⅩⅢ deficiency family members. Results The proband had a del- aa at nucleotide（nt） 72045 in exon 5, both of her parents and sister were correspondingly heterozygotes at the same nucleotide. Conclusion The mutation was resulted in FⅩⅢA deficiency.