�Ϻ���ͨ��ѧҽѧԺ�����»�ҽԺƤ����

��ժҪ�� ����Ӫ�������ʹ����Ա�Ƥ�ɽ�֢��һ�ֱ�����ͽ�ԭ���׵�COL7A1����ͻ�䵼��Ƥ����Ŵ���Ƥ���������ٴ�����ΪƤ����Ħ�������ˮ�塢���á����裬���������ۼ�ή�������귢�֣�����Ӫ�������ʹ����Ա�Ƥ�ɽ�֢���ߵIJ�������ĸ���ܴ�����ֳ��Ƕ���������Ŷ�Ƕ��ͻ���о����ս����죬��������˽�Ƕ��ͻ��������Ӫ�������ʹ����Ա�Ƥ�ɽ�֢�ٴ�����֮�������ԣ���ʶ����Ӫ�������ʹ����Ա�Ƥ�ɽ�֢�ķ������ڶԺ�������Ŵ�������ѯʱ�������Ƿ������ֳϵǶ�϶Բ�ǰ��������кܴ�İ�����

Shen Jinwen, Yao Zhirong Department of Dermatology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China Corresponding author: Yao Zhirong, Email: dermatology.yao@sohu.com ��Abstract�� Dominant dystrophic epidermolysis bullosa ��DDEB�� is a genetic skin disease caused by mutations in the COL7A1 gene encoding type �� collagen, and is clinically characterized by blisters, erosions and crusting after skin friction which will heal leaving scars and atrophy. Recent studies have shown the presence of gonadosomatic mosaicism in unaffected parents of patients with DDEB. The development of relevant researches has enriched our knowledge about the relationship between genetic mosaicism and clinical phenotypes of DDEB, as well as about the occurrence of DDEB. During genetic counseling for the risk of DDEB in offspring, to take into account gonadosomatic mosaicism is of great value in prenatal genetic diagnosis.