代谢性皮肤单基因病临床与分子遗传学研究进展  

Advance of clinical studies and molecular genetics of metabolic skin monogenic disease

作　　者：孙景英[1] 黄贺[1] 孙良丹[1] 张学军[1] 

机构地区：[1]安徽医科大学第一附属医院皮肤性病科/皮肤病研究所,合肥230032

出　　处：《国际遗传学杂志》2017年第4期238-242,共5页International Journal of Genetics

摘　　要：代谢性皮肤单基因病是由某些代谢性原因引起皮肤异常表现的单基因病，这类疾病具有遗传性、代谢异常以及皮肤异常表现等共同特点，主要涉及淀粉样蛋白、卟啉、铁、半乳糖苷酶、类脂蛋白以及苯丙氨酸等物质的代谢异常。常见的代谢性皮肤单基因病有家族性原发性皮肤淀粉样变、红细胞生成性原卟啉病、遗传性血色病、弥漫性躯体血管角皮病、类脂蛋白沉积症和苯丙酮尿症等。其中家族性原发性皮肤淀粉样变具有一定的遗传异质性，国内外很多家系尚未发现易感基因，未来需要继续探索。FECH基因的突变类型众多，这给明确红细胞生成性原卟啉病的突变位点和产前诊断带来一定困难。蛋白酶体抑制剂MGl32和rha-GLA联合应用可以显著恢复GLA酶的活性，未来可能有助于研发治疗弥漫性躯体血管角皮瘤的药物。Metabolic skin monogenic disease is a kind of monogenic disease with abnormal skin features induced by metabolic reasons, for example, amyloid protein, porphyrin, iron, galactosidase, li- poid proteinosis and phenylalanine. There are some common metabolic skin monogenic diseases in daily clinical life, such as, familial primary cutaneous amyloidosis, erythropoietic protoporphyria, hereditary he- mochromatosis, Fabry disease, Lipoid proteinosis, Phenylketonuria and so on. Among those diseases, FP- CA is characterized by certain genetic heterogeneity, and its susceptibility genes for many pedigrees are still under intensive investigation at home and abroad. Since there are various mutation types of FECH gene, it is hard to determine risk genes for erythropoietic protoporphyria and prenatal diagnosis. Protea- some inhibitor MG132 combined with rhfl-GLA can improve the activity of GLA enzyme, which may be helpful in drug research.

关 键 词：单基因病 代谢 遗传学 淀粉样变 类脂蛋白 

分 类 号：R596[医药卫生—内科学]