由華大基因和安徽醫(yī)科大學第一附屬醫(yī)院張學軍教授科研團隊合作研究的成果《利用外顯子測序技術(shù)發(fā)現(xiàn)并驗證了NCSTN基因的突變可導致逆向性痤瘡的發(fā)生》在國際知名雜志Journal of Investigative Dermatology 上在線發(fā)表,，這是我國科學家將外顯子測序技術(shù)應用于單基因病致病基因?qū)ふ业挠忠豁椫匾晒?，對NCSTN基因突變的檢測和逆向性痤瘡及其相關(guān)疾病的診斷,、治療具有十分重要的意義。
逆向性痤瘡(Inversa acne AI)又名化膿性汗腺炎,，是一種少見的常染色體顯性遺傳病,，以反復發(fā)生皮膚膿腫、竇道及瘢痕形成為特征性表現(xiàn),。本病多發(fā)生于女性,，由于大汗腺導管閉塞繼發(fā)細菌感染所致。除皮損外,，AI還可伴發(fā)關(guān)節(jié)炎或者繼發(fā)鱗狀上皮細胞癌,，不僅對患者的健康和美觀均有極大影響，而且可造成患者嚴重的身心負擔,。（生物谷Bioon.com）
生物谷推薦原文出處：
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.
