1. ������ѧ��һҽԺƤ����, ������ѧƤ���Բ��������� , 100034;
2. ������ѧ����ҽԺƤ����, 100083

Ŀ�� ����-Hallopeau-Siemens�ͳ�Ⱦɫ�������Ŵ���Ƥ�ʹ����Ա�Ƥ�ɽ�֢��ϵ�Ļ���ͻ��,Ϊ��һ����չ��ǰ��ϵ춨����.���� ��ȡ���߼��丸ĸ�Ļ�����DNA,Ӧ�þۺ�ø����Ӧ��DNAֱ�Ӳ�����ȷͻ��λ��,��ʹ��������Ƭ�γ��ȶ�̬�Է�����һ��ȷ���ü�ϵ���²�ԭ��.��� ���ֻ���COL7A1�������2��ͻ��:�ٵ�12���������ϵ�4326λ����ɰ����ͻ��Ϊ�������,ʹ��525λ�������ɾ�����(G)ͻ��Ϊ��ֹ����(R525X);�ڵ�105���������ϵ�27716λ����ɰ����ͻ��Ϊ�������,ʹ��2510λ�������ɾ�����(G)ͻ��Ϊ��ֹ����(R2510X).��ĸΪR525Xͻ���Ӻ���,�丸ΪR2510Xͻ���Ӻ���.���� COL7A1�����R525X����ͻ���R2510X����ͻ��������û����ٴ�֢״������ͻ��.

Department of Dermatology, First Hospital of Peking University, Peking University Skin Disease and STD Center, Beijing 100034, China

Objective To detect the mutation of COL7Al gene in a family with Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa. Methods Genomic DNA was extracted from the proband and her family members. All 118 exons of COL7Al gene were amplified by PCR. Mutation scanning was carried out via direct DNA sequencing, and restriction fragment length polymorphism(RFLP) was conducted to confirm the results. Results Two mutations were detected in COL7Al gene of the proband,included a lrnown nonsense mutation of C4326T located at codon 525(R525X)in exon 12 and a novel nonsense mutation of C27716T located at codon 2510(R2510X) in exon 105, and both of them caused premature termination codons. A heterozygote of R525X was identified in the proband's mother and a heterozygote of R2510X in her father. Conclusion Our results suggest that the mutations of R525X and R2510X in COL7Al gene are the underlying cause of Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa in this proband.

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