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2. Inborn Errors of Metabolism Inborn errors of metabolism are rare genetic disorders in which the body cannot turn food into energy (metabolize food) normally. The disorders are usually caused by defects in the enzymes involved in the biochemical pathways that break down food components
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1. molecular disease 2. inborn errors of metabolism
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1. factors inducing chromosome aberration 2. chromosomal aberrations
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1. chromatin 2.Chomosome 3. Sex chromosome and sex-determination 4. chromosomal polymorphism 5. An International System for Human Cytogenetic Nomenclature
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1. Variability and Gene (or Allelic) Frequencies 2. The Hardy-Weinberg Law 3. Factors that Affect Stability of Gene Frequencies
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1. Mitochondrial DNA 2. mtDNA replication 3. Mitochondrial Inheritance
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1. REGRESSION TO THE MEAN 2. POLYGENIC INHERITANCE 3. THE MULTIFACTORIAL MODEL 4. THRESHOLD MODEL OF DISEASE 5. SEVERITY OF DISEASE AND RECURRENCE RISK 6. MULTIPLE AFFECTED OFFSPRING AND 7. CONSANGUINITY 8. HALLMARKS OF MULTIFACTORIAL INHERITANCE
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1. Pedigree and Proband 2. autosomal dominant inheritance 3. AUTOSOMAL RECESSIVE INHERITANCE 4. X-LINKED DOMINANT INHERITANCE 5. X-LINKED RECESSIVE INHERITANCE 6. Y-linked 7. SPECIAL FEATURES
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1.Genes can be mutated in many ways 2. Somatic versus germline mutations 3. Types of mutation effects
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1. Mutagens or Mutagenic Agents 2. Mechanism of Mutation 3. Result of mutation 4.functional effects of the change. 5.Genetic Effects of mutation 6. Repair of Mutation
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