1. ����ҽ�ƴ�ѧ����Э��ҽԺ
2. �й�ҽѧ��ѧԺ&����Э��ҽѧԺ Ƥ�����о���
3. �Ͼ������Ͼ���ҽԺƤ����
4. �й�ҽѧ��ѧԺƤ�����о���
5. �й�ҽѧ��ѧԺ�Ͼ�Ƥ�����о���
6. �й�ҽѧ��ѧԺ&����Э��ҽѧԺ Ƥ�����о���

��ժҪ�� Ŀ�� �о�һ��ϵ2�����巴���������γ����ø�����ͻ�䡣 ���� ��ȡ��ϵ��5����Ա��2�����ߡ���֤�߸��ס�2��Ŀǰδ�����ߣ�������ѪDNA������nicastrin���ף�NCSTN���������أ�PSEN�� 1����������ǿ�ӣ�PSENEN����ǰ��ȱ�ݵ��ף�APH1���������������ӺͲ������н��в��򣬲���100���޹�ϵ��������Ϊ���ա�ͬʱ�Ƚ���֤��Ƥ����4����������NCSTN����mRNA�����졣 ��� ��⵽2������Ѫ��DNA����NCSTN�����е�477λ�������C→A���Ӻ�ͻ�䣬��c.477C>A������3����ϵ��Ա����������δ������Ӧͻ�䣻��ѯ�����������＼����Ϣ������վ���������̬�����ݿ�Ҳδ���ִ�ͻ�䡣���⣬��֤��Ƥ��NCSTN mRNAˮƽ�Ͻ����������Լ��١� ���� NCSTN�����µ�����ͻ��c.477C>A�Ǹ÷��������ϵ���²�ͻ�䣬������ͨ������鵼��mRNA����;�����¸û�����ʧ�

iao Xuemin*, Xu Haoxiang, Hui Yun, Zhang Xiaofeng, He Yanyan, Li Chengrang, Wang Baoxi. *Department of Dermatology, Union Hospital, Fujian Medical University, Fuzhou 350001, ChinaCorresponding authors: Li Chengrang, Email: nylcr72@163.com; Wang Baoxi, Email: wangbx@ncstdlc.org ��Abstract�� Objective To identify mutations of the γ-secretase gene in two patients with acne inversa ��AI�� in a Chinese pedigree. Methods Blood samples were obtained from 5 family members ��including 2 patients, the proband′s father, 2 unaffected family members�� and 100 unrelated healthy controls. Genomic DNA was extracted from these blood samples, and PCR was conducted to amplify all the exons and their flanking sequences of nicastrin ��NCSTN��, presenilin-1 ��PSEN1��, presenilin enhancer ��PSENEN�� and anterior pharynx-defective 1 ��APH1�� genes, followed by direct sequencing. Besides, the NCSTN mRNA in skin lesions of the proband was compared with that in the normal skin of 4 healthy controls. Results A heterozygous mutation ��c.477C > A�� at position 477 in the exon 5 of the NCSTN gene, which had not been described previously in the National Center for Biotechnology Information ��NCBI�� single nucleotide polymorphism database, was identified in the 2 patients, but not observed in the other 3 unaffected family members or the 100 unrelated controls. Additionally, the mRNA of NCSTN was evidently decreased in the lesions of the proband compared with the normal skin of healthy controls. Conclusion The novel nonsense mutation c.477C> A in the NCSTN gene is the causative mutation of AI in this family, and it may induce functional inactivation of NCSTN through the nonsense-mediated mRNA decay.

������Ȼ��ѧ����;������Ȼ��ѧ����;Э��������л���