交大医学遗传学课件3.pdf

第五章单基因遗传病 Single-gene disorders Monogenic disorder 一、单基因病的遗传方式 （一）常染色体显性遗传 （二）常染色体隐性遗传 （三）X伴性显性遗传 （四）X伴性隐性遗传 二、单基因病的若干问题 OMIM Statistics for September 15, 2009 Number of Entries Autosomal X-Linked Y-Linked Mitochondrial Total Gene with known sequence 12224 602 48 35 12909 Gene with known sequence and phenotype 341 23 0 2 366 Phenotype description, molecular basis known 2