Early-onset cases usually have paternal inheritance huntingtin gene location 4p163 Basic defect Dynamic mutation (expansion of CA) of huntingtin Pathophysiology Unknown Prenantal Possible diagnosis Treatment None available Significance a classic autosomal dom inant disorder associated with severe neurological and mental illness particularly distressing because the onset age is typically in the post-reproductive years. Also, the first Mendelian disorder mapped by linkage to DNA markers 其他常见且主要的常染色体显性遗传病见表5-1。 表5-1一些常染色体显性遗传病举例 疾病中文名称 疾病英文名称 OMM染色体定位 家族性高胆固醇血症 familial hypercholesterolemia 14389019p132 遗传性出血性毛细血管扩 hereditary hemorrhagic 018730 9q341 telangiectasia 遗传性球形红细胞症 elliptocytosis 1305001p362-p 急性间歇性卟淋症 porphyria, acute intermittent 1760001lq23.3 迟发性成骨发育不全症 osteogenesis imperfecta.,type 16620017q21.31-q22 成年多囊肾病 polycystic kidney disease, adult 173900 16p13. 3-p13 12 α-珠蛋白生成障碍性贫血 alpha-thalassemias 14180016pter-p13.3 短指(趾)症A1型 brachydactyly, type Al l125002q35-q36 特发性肥大性主动脉瓣下 supravalvular aortic stenosis 1855007q11.2 狭窄 遗传性巨血小板病,肾炎和 Fechtner syndrome 15364022q112 耳聋4 Early-onset cases usually have paternal inheritance huntingtin gene location 4p16.3 Basic defect Dynamic mutation（expansion of CAG）of huntingtin gene Pathophysiology Unknown Prenantal diagnosis Possible Treatment None available Significance A classic autosomal dominant disorder associated with severe neurological and mental illness, particularly distressing because the onset age is typically in the post-reproductive years. Also, the first Mendelian disorder mapped by linkage to DNA markers. 其他常见且主要的常染色体显性遗传病见表 5-1。 表 5-1 一些常染色体显性遗传病举例 疾病中文名称 疾病英文名称 OMIM 染色体定位 家族性高胆固醇血症 familial hypercholesterolemia 143890 19p13.2 遗传性出血性毛细血管扩 张 hereditary hemorrhagic telangiectasia 018730 9q34.1 遗传性球形红细胞症 elliptocytosis 130500 1p36.2-p34 急性间歇性卟淋症 porphyria, acute intermittent 176000 11q23.3 迟发性成骨发育不全症 osteogenesis imperfecta, type I 166200 17q21.31-q22 成年多囊肾病 polycystic kidney disease, adult 173900 16p13.3-p13.12 -珠蛋白生成障碍性贫血 alpha-thalassemias 141800 16pter-p13.3 短指（趾）症 A1 型 brachydactyly, type A1 112500 2q35-q36 特发性肥大性主动脉瓣下 狭窄 supravalvular aortic stenosis 185500 7q11.2 遗传性巨血小板病，肾炎和 耳聋 Fechtner syndrome 153640 22q11.2