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