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Review and Alterations
Genetics Review and Alterations
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Terminology Chromosome: types, number Haploid, Diploid
Gene, Allele, Loci Homozygous, Heterozygous Karyotype, Phenotype, Genotype Carrier, Dominant, Recessive Nucleic Acids, Base Pairs Replication: DNA, mitosis, meiosis Protein Synthesis Transcription Translation
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Chromosome Pairs in Species
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Chromosome Types
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Chromosome #: Long to Short
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Human Karyotype
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Chromosome Arms and Centromere
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Homologous Chromosomes
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Allele and Loci
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Homozygous and Heterozygous
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Phenotype and Genotype
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Carrier, Dominant, Recessive
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Chromosome structure
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Chromosome vs Chromatin
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Looped Domains and Chromatin
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Histones and Nucleosomes
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DNA
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DNA structure
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Gene 1.5% of Genome DNA base pairs (~ 100,000)
Encode a product (protein, tRNA, rRNA) Responsible for a measurable trait Introns Exons
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DNA Base Pairs
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Nucleoside
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DNA Replication
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Cell Cycle Review
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Mitosis
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Meiosis
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Mitosis and Meiosis Compared
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Meiosis I: Normal
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Non Disjunction
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Chromosome Disorders Chromosome Number Trisomic (n + 1)
Euploid (2N) Polyploid (exact multiple) Triplody (3N) Tetraplody (4N) Anueploid (not exact multiple) Trisomic (n + 1) Autosomes Down’s Syndrome Sex Chromosomes Klinefelter Monosomic (n-1) Sex Chromosome Turner Mosaics (not all cells affected) Somatic Gonadal
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Anaphase
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Extra Chromosomal Disorders
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Down Syndrome (Trisomy 21)
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Anueploid
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Chromosome Abnormalities
Structure Break and reassemble abnormally Inversion Translocation Insertion Deletion Duplication
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Inversions
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Translocations
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Translocation in Meiosis
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Insertions and Deletions
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Insertion
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Deletion 1, 2, or 3 base pairs are deleted Frameshift reading
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Chromosome Deletions
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Deletion example
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Prader-Willi / Angelman Syndromes
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Cancers caused by Deletions
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Wilms Tumor
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Duplications Doubling section of genome Unequal Crossing over
Multiple repeats of nucleotides
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DNA section duplicated
Huntington’s CAG repeated Fragile X CGG repeated MD CTG repeated
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Chromosomal Mutation Summary
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DNA Transcription
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Transcription Steps
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Translation
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DNA codon for AA
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DNA Damage
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Mutation: Define S phase Types Single Base Pair substitution
Missense Nonsense Silent Frame shift Spontaneous Induced
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Base Pair Substitution (point mutation)
Transition Purine for Purine Pyrimadine for Pyrimadine Transversion Purine for Pyrimadine Pyrimadine for Purine
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Transition
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Nonsense Mutation Transversion: UGC to UGA
Nonsense mutations result in stop codons
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Nonsense Mutations Codon changed Stop codon is read TAA TAG TGA
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Missense Mutation Transversion: UGC to UGG
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Missense Mutation Miscoding of AA can lead to diseases such as SSA and CF
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Silent Mutation
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Frame Shift
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Mutation Summary
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Spontaneous Mutations
Depurination Deamination Oxidation damage to DNA
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Spontaneous Mutations in the population
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Depurination and Deamination
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Induced Mutations Mutagentic Base Analog Chemical Agents
Ultraviolet Radiation Ionizing Radiation
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Induced Mutations UV Base Analog Mutagen
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Ionizing Radiation
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Mendelian Inheritance Patterns
Dominant / Recessive CoDominance Incomplete Dominance Sex Linked Multifactoral
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Dominant, Recessive, Sex-linked
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Sex-Linked Punnett Square
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CoDominance: Blood Types
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Incomplete Dominance: SSA
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Incomplete Dominance: OI
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Genetic Disorders: Single Gene
Autosomal Dominant Autosomal Recessive X-linked dominant X-linked recessive
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Hereditary Map of Autosomal Dominant Traits
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Autosomal Dominant Achondroplastic dwarfism vonWillibrand’s Disease
Abnormal endochondrial bone formation causing dwarfism vonWillibrand’s Disease Factor VIII defect causing bleeding disorders Neurofibromatosis Increased neurofibromatoma Polycystic Kidney Disease Cystic enlargement, hematuria, hypertension, and possible renal failure Alzheimers (10% of cases) dementia Machado-Joseph Spinocerebellar degeneration Marfan syndrome Abnormal fibrillin causing excessive bone growth, ocular disorders, & cardiac defects
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Huntington Disease Basal ganglia
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Huntington brain compared to normal
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Hydrocephalus
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Hydrocephalus brain image
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Polycystic Kidney Disease
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PKD Human kidney Cat kidney
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Neurofibromatosis
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Neurofibromatosis Clinical Signs
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Marfan Syndrome Abnormal fibrillin, Affects elastic C.T.
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Osteogenesis Imperfecta
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Autosomal Dominant: Metabolic
Familial hypercholesterolemia Acute intermittent porphyria
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Familial Hypercholesterolemia
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Polydactylia
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Autosomal Dominant Gene Therapy
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Autosomal Recessive Albinism Sickle Cell Anemia
Tyrosine can not be changed to melanin for pigment Sickle Cell Anemia Amino acid substitution in beta chain of hemoglobin, sickling
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X and Y Chromosomes
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X-linked Disease Pedigree
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Sex-Linked
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Sex Linked Disease Symptoms DMD (Xp21) Menkes (Xq12-q13)
Muscular weakness and degeneration due to lack of dystrophin protein Menkes (Xq12-q13) Copper storage disease that leads to neurodegeneration and CT disorders Color Blindness Defective function of cones for red and green color vision Hemophilia A (Xq28) Bleeding disorder due to a Factor VIII deficiency Fabry (X Temperature intolerance, enlarged heart, whole body pain, depression, vomiting / diarrhea SCID (Xq13.1) Immune deficiency impairment, death
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X-linked Diseases
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Hemophilia
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Duchenne Muscular Dystrophy
Absence of Dystrophin causes membrane to leak CP causing weakness associated with DMD
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X-Linked SCID Inheritance
Most common form Mutation in IL-2 receptor gene Lymphopenia Absence of T cells Absence of NK cells Abnormal B cells
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Other X-linked Immune Diseases
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Loci on X and Y Chromosomes
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Fun Y Chromosome loci
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Multifactoral Inheritance
Several Genes Environmental factors Cluster in families Examples Cleft lip or palate Congenital heart disease Club foot Pyloric Stenosis
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Multifactoral
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Gene Map of Disease Loci
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Chromosome 4 Conditions
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Epigenetic Alterations
Methylated DNA is inactivated
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Gene Expression
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Cell Cycle
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Mitochondria
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Mitochondrial DNA (mtDNA)
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Chromosomes in Mitochondria
Heavy Strand Light Strand
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DNA compared
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Inheritance Patterns Compared
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Results of Inheritance Patterns
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Mitochondrial DNA disorders
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Mitochondrial Genetic Diseases
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Additional Terminology
Congenital Defect Mutagen Teratogen Carcinogen Hot Spots Cloning
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Genetic Testing
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Karyotyping of Sample
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Genetic Counseling
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Gene Therapy
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Questions?
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