2015年第42卷第6期目录
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封面故事:成骨不全作为罕见性遗传性结缔组织疾病,具有临床异质性与遗传异质性,迄今分为15个亚型.有常染色体显性遗传与常染色体隐性遗传两种遗传方式.常染色体显性遗传以Ⅰ型胶原蛋白结构基因COL1A1,COL1A2突变为主.IFITM5作为V型成骨不全的致病基因,与骨的矿化异常相关.非Ⅰ型胶原蛋白结构基因突变的常染色体隐性遗传的成骨不全患者数量少,但涉及到的致病基因种类多,包括SERPINF1、CRTAP、LEPRE1、PPIB、SERPINH1、FKBP10、SP7、BMP1、TMEM38B、WNT1、CREB3L1以及成骨不全-布鲁克综合征致病基因PLOD2等.常染色体隐性遗传的成骨不全分子机制涉及到胶原合成后异常修饰,胶原蛋白分子伴侣及羧基端前肽剪切酶缺陷、成骨细胞与破骨细胞分化及转录因子异常、钙离子通道与Wnt信号通路分子等诸多方面.成骨不全致病基因及其机制的研究,对于该疾病的基因确诊、产前筛查以及个体化药物治疗意义重大.
(鲁艳芹,任秀智,王延宙,韩金祥. 成骨不全及其分子机制,本期第511~518页)
Cover Story:Osteogenesis imperfecta (OI) is a group of rare genetic connective tissue diseases with clinical heterogeneity and genetic heterogeneity. Till now, fifteen subtypes of OI has been identified. Autosomal dominant OI is the primary inheritance pattern, and it is caused by mutations in the COL1A1 or COL1A2 genes that encode the proa1 and proa2. Recessively inherited forms of OI are rare and are caused by mutations in many different genes, which related with post-transcriptional modification, defects of collagen's chaperons and C-propeptide cleavage enzyme, osteoblast/osteocyte differentiation and transcript factor, Ca2+ channel as well as Wnt signaling molecules. The pathogenic genes and mechanisms to dominant and recessive OI are useful for gene detection and individual therapy of OI patients.
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综述与专论
研究快报
研究报告
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