由华大基因和安徽医科大学第一附属医院张学军教授科研团队合作研究的成果《利用外显子测序技术发现并验证了NCSTN基因的突变可导致逆向性痤疮的发生》在国际知名杂志Journal of Investigative Dermatology 上在线发表,这是我国科学家将外显子测序技术应用于单基因病致病基因寻找的又一项重要成果,对NCSTN基因突变的检测和逆向性痤疮及其相关疾病的诊断、治疗具有十分重要的意义。
逆向性痤疮(Inversa acne AI)又名化脓性汗腺炎,是一种少见的常染色体显性遗传病,以反复发生皮肤脓肿、窦道及瘢痕形成为特征性表现。本病多发生于女性,由于大汗腺导管闭塞继发细菌感染所致。除皮损外,AI还可伴发关节炎或者继发鳞状上皮细胞癌,不仅对患者的健康和美观均有极大影响,而且可造成患者严重的身心负担。(生物谷Bioon.com)
生物谷推荐原文出处:
Journal of Investigative Dermatology doi: 10.1038/jid.2011.62
Confirmation by Exome Sequencing of the Pathogenic Role of NCSTN Mutations in Acne Inversa (Hidradenitis Suppurativa)
Yuan Liu1,2,4, Min Gao1,2,4, Yong-mei Lv1,2,4, Xu Yang3,4, Yun-qing Ren1,2, Tao Jiang3, Xin Zhang1,2, Bi-rong Guo1,2, Min Li1,2, Qing Zhang3, Peng Zhang3, Fu-sheng Zhou1,2, Gang Chen1,2, Xian-yong Yin1,2, Xian-bo Zuo1,2, Liang-dan Sun1,2, Xiao-dong Zheng1,2, Shu-mei Zhang1,2, Jian-jun Liu1,2, Youwen Zhou1,2, Ying-rui Li3, Jun Wang3, Jian Wang3, Huan-ming Yang3, Sen Yang1,2, Rui-qiang Li3 and Xue-jun Zhang1,2
1Department of Dermatology, Institute of Dermatology, No. 1 Hospital, Anhui Medical University, Anhui, China
2State Key Laboratory Incubation Base of Dermatology, Ministry of National Science and Technology, Anhui, China
3Beijing Genomics Institute-Shenzhen, Shenzhen, China
4These authors contributed equally to this work.
TO THE EDITORAcne inversa (AI; also known as hidradenitis suppurativa; OMIM #142690) is an autosomal dominantly inherited skin disorder characterized by recurrent draining sinuses and abscesses with subsequent scarring and chronic seepage. It mainly affects the scalp, neck, the axillae, perineum, and inframammary regions, which may lead to social embarrassment and have a profound impact on the quality of life.