genetics review and alterations. terminology chromosome: types, number haploid, diploid gene,...
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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
Gene
1.5% of Genome DNA base pairs (~ 100,000) Encode a product
(protein, tRNA, rRNA)
Responsible for a measurable trait
Introns Exons
Chromosome Disorders Chromosome Number
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
Chromosome Abnormalities
Structure Break and
reassemble abnormally
Inversion Translocation Insertion Deletion Duplication
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
Mendelian Inheritance Patterns
Dominant / Recessive
CoDominance Incomplete
Dominance Sex Linked Multifactoral
Genetic Disorders: Single Gene
Autosomal Dominant
Autosomal Recessive
X-linked dominant X-linked recessive
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
Autosomal Recessive
Albinism Tyrosine can not be changed to melanin for pigment
Sickle Cell Anemia Amino acid substitution in beta chain of hemoglobin, sickling
Sex Linked
Disease Symptoms
DMD (Xp21) 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
Duchenne Muscular Dystrophy
Absence of Dystrophin causes membrane to leak CPcausing 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
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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