Chapter7PatternsofSingle-GeneInheritance精品资料.ppt

Chapter 7 Patterns of Single-Gene Inheritance;;;OVERVIEW AND CONCEPTS（概述）;;Genotype and Phenotype（基因型和表型）;;Pedigrees（系谱）;;MENDELIAN INHERITANCE（孟德尔遗传）;;Dominant and Recessive Inheritance（显性和隐性遗传）;Dominant Inheritance（显性遗传）;FACTORS AFFECTING PEDIGREE PATTERNS（影响系谱的因素）;Expressivity（表现度）;Neurofibromatosis(NF1)（神经纤维瘤病）;;Split-hand deformity（手裂畸形）;Age at Onset（发病年龄）;Other Factors Affecting Pedigree Patterns（影响系谱的其他因素）;CORRELATING GENOTYPE AND PHENOTYPE（基因型和表型的相关性）;Allelic Heterogeneity（等位异质性）;Locus Heterogeneity（基因座异质性）;Phenotypic Heterogeneity（表型异质性）;AUTOSOMAL PATTERNS OF MENDELIAN INHERITANCE（孟德尔遗传的常染色体方式）;Gene Frequency and Carrier Frequency（基因频率和携带者频率）;Consanguinity（近亲）;Characteristics of Autosomal Recessive Inheritance（常染色体隐性遗传的特点） ;;Autosomal Dominant Inheritance（常染色体显性遗传）;;Incompletely Dominant Inheritance（不完全显性遗传）;Relationship Between New Mutation and Fitness in Autosomal Dominant Disorders;Sex-Limited Phenotype in Autosomal Dominant Disease;Characteristics of Autosomal Dominant Inheritance（常染色体显性遗传的特征）;;;X-LINKED INHERITANCE（X-连锁遗传）;X Inactivation, Dosage Compensation, and the Expression of X-Linked Genes;Recessive and Dominant Inheritance of X-Linked Disorders（X-连锁隐性和显性遗传病）;X-Linked Recessive Inheritance（X-连锁隐性遗传）;;Characteristics of X-Linked Recessive Inheritance（X-连锁隐性遗传的特征）; ;Manifesting Heterozygotes and Unbalanced Inactivation for X-Linked Disease;;X-Linked Dominant Inheritance（X-连锁显性遗传）;X-Linked Dominant Disorders with Male Lethality（导致男性患者致死的X-连锁显性遗传病）;New Mutation in X-Linked Disorders（X-连锁遗传病的新突变）;UNSTABLE REPEAT EXPANSIONS（不稳定性重复扩增）;;Polyglutamine Disorders（多聚谷氨酰胺病）;;;Fragile X Syndrome（脆性X综合征）;Myotonic Dystrophy（强直性肌营养不良）and Friedreich Ataxia（Friedreich 共济失调）;Similarities and Differences Among Unstable Repeat Expansion Disorders（???稳定性重复扩增遗传病的相同点和不同点）;MATERNAL INHERITANCE OF DISORDERS CAUSED BY MUTATIONS IN THE MITOCHONDRIAL GENOME（线粒体基因组突变引起的母系遗传病）;The Mitochondrial Genome（线粒体基因组）;Replicative Segregation（复制分离）;Homoplasmy and Hete