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Cytogenetics
Exams
| Question | Answer |
|---|---|
| Only requires 1 copy of the affected allele for the disease to manifest in the offspring. | Autosomal Dominant |
| Both copies of the affected allele must be passed onto the offspring. | Autosomal Recessive |
| Inborn error of metabolism | Phenylketonuria |
| Full name of PAH enzyme | Phenylalanine Hydrolase |
| Clinical Manifestions: (Phenylketonuria) | Main: Severe Mental Retardation, Seizures, Eczema, Decrease in Hair pigmentation |
| Inability to convert phenylalanine to _ | Tyrosine |
| Tyrosine is a precursor for what protein. | Melanin |
| XPA/XPA (9q22) Gene Mutation | Xenoderma Pigmentosum. |
| Is Xeroderma Pigmentosum a Autosomal Recessive Disease? | Yes |
| Cause of said disease (Xeroderma Pigmentosum) | Impaired Nucleotide Excision Repair |
| Purpose of Nucleotide Excision Repair | To remove bulky DNA lesions formed from UV light |
| Clinical Manifestations (Xeroderma Pigmentosum) | Cancerous cell melanomas and basal cell carcinomas. This particular patient is probably exposed to prolonged exposure to UV light. |
| Autosomal Recessive Hemoglobinopathy | Sickle Cell Anemia |
| Heme is composed of 4 subunits: | 2 Beta Globin & 2 alpha Globin |
| Molecules consisting of the same sub molecules that are stuck together, | Polymers? |
| Impaired fluid secretion in their exocrine glands and epithelial linings. | Cystic Fibrosis |
| Gene Responsible for the Regulation of Chloride Transport Channels | CFTR (Cystic Fibrosis Transmembrane Receptor Channel) |
| Sodium is a _ | Cation (Extracellular) |
| Cation that is intracellular (Clue: Element) | Potassium |
| Electrolyte Concentration (Checking) = | Confirmatory Testing for Cystic Fibrosis |
| Where is Bilirubin produced? | Liver |
| Heterozygote carrier of CF can lead to what: | Increase likelihood of Respiratory and Pancreatic Diseases. |
| Most common form of skeletal dysplasia (Autosomal Dominant) | Achondroplasia |
| No skipping of genes | Autosomal Dominant |
| Effects of Achondroplasia | Retarded Cartilage Growth |
| Achondroplasia is caused by what gene | FGFR-3 (Fibroblast Growth Factor Receptor 3) |
| The stop of endochondral growth up until a certain time is why there is what we call: | Bone Maturity |
| Protein Receptor Disease: | Familial Hypercholesterolemia |
| Receptor that is causing Familial Hypercholesterolemia: | LDL Receptor |
| Heterozygotes | 2x to 3x plasma cholesterol concentration levels |
| Homozygotes | 5x to 6x plasma cholesterol concentration levels |
| Low density Lipoprotein Receptor | LDLR |
| Connective Tissue Disorder | Marfan Syndrome |
| Gene Responsible for Marfan | FBN (15q21.1) |
| Disorders/of Porphyrin Metabolism | Porphyria |
| Pigments present in hemoglobin, myoglobin, and cytochromes | Porphyrin |
| Genes on X chromosome | X-Linked |
| Genes on Y chromosome | Y-linked |
| Inability to see green and red color | Red-green Colorblindness |
| Inability to form blood clots | Hemophilia A |
| lack of HGPRT Protein, Mental retardation, self-mutilation | Lesch-Nyhan Syndrome |
| Duchenne-type, progressive condition w/muscle wasting | Duchenne Muscular Dystrophy |
| Trinucleotide repeat disorder, mental retardation | Fragile X syndrome |
| DMD Gene Deletion- necessary information to produce the protein _ | Dystrophin |
| Muscle cells will be replaced by _ (Duchenne Muscular Dystrophy) | Fat |
| Most common hereditary disease associated with LIFE THREATENING BLEEDING | HEMOPHILIA A |
| Deletion of what factor (Gene) | (Factor VIII) |
| Clinical Manifestations (Hemophilia A) | Easy bruising, Massive Hemorrhage |
| Bleeding of the joints | Hemarthroses |
| Gene that is causing Fragile X | FMR-1 (Xq27.3) |
| FMR1 | Familial Mental Retardation 1 gene |
| FMR 1 Gene Location of error | Long arm of X Chromosome |
| PHEX (Xp22) | X-linked Hypophosphatemia/ Vitamin D. Resistant Rickets |
| (-) | PHEX Protein |
| (+) | Abnormal Vit. D receptor |
| Where is the PHEX mutation located in the chromosome | Short arm |
| Increase in resistant to Vitamin D -> leads to unable to regulate phosphate in your blood through the kidneys hence: | Abnormal Bone Development |
| Familial Glomerular Disorder - Affects the kidneys | Alport Syndrome |
| What gene mutation (Alport) | GBM Type 4 Collagen (In the glomerular basement membrane) |
| Alport syndrome is primarily X linked - Dominant; with _ | with/ AutosomalDominant/ Recessive Variants |
| Clinical Manifestations (Alport Syndrome) | Kidney problems with audiovisual defects |
| Human Chromosome | 46 |
| Chimpanzee Chromosome | 48 |
| Mouse Chromosome | 40 |
| Corn Chromosome | 20 |
| 22 Pairs of _ | Autosomes |
| 23rd Pair of _ | Sex Chromosomes |
| There may be additional numbers of chromosomes (either in chromosomal pairs or in one chromosome only) | Numerical Abnormalities |
| This occurs when a portion of a chromosomal pair is missing or duplicated, etc. | Structural Abnormalities |
| The usual number and sets of chromosomes | Euploidy |
| The presence of 3 or more complete sets of chromosomes | Polyploidy |
| Aneuploidy | The presence of additional chromosomes or missing individual chromosomes |
| Non-Disjunction | Malsegregation of the chromosomes during cell division |
| Too many / few chromosomes in all cells | Meiotic |
| Group of cells / patch of tissue with altered chromosome number | Mitotic |
| Results in 2 diploid cells | Meiosis I |
| Results in 4 Haploid cells | Meiosis II |
| Results to 2 trisomic cells and 2 monosomic cells | Non disjunction in Meiosis I |
| Results in 1 trisomic cell, 1 monosomic cell, and 2 normal cells | Non disjunction in Meiosis II |
| Three sets of chromosomes | Triploidy (23x3=69) |
| Four sets of chromosomes | Tetraploidy (23x4=92) |
| Types of Aneuploidy | Monosomy, Trisomy |
| 1 less chromosome | Monosomy |
| 1 more chromosome | Trisomy |
| Trisomy 13 | Patau Syndrome |
| Trisomy 18 | Edwards Syndrome |
| Trisomy 21 | Down Syndrome |
| 47, XY or XX + 21 | Down Syndrome |
| Phenotype for Trisomy 21 | Flat Nasal bridge, Irregularly shaped mouth, Single Palmar Crease, Almond Shaped Eyes |
| It is uncommon for fetuses to survive with this condition, 2-4 months lifespan | Edward Syndrome |
| Phenotype for Edward's Syndrome | Severe Mental Retardation, Elongated skull, Narrow Pelvis, Ears are often low set and mouth and teeth are small. |
| (47, XX +13) | Patau Syndrome |
| Characteristics of Patau | Ave life span = 6 months, Cleft lip and Palate, |
| Having one fewer chromosome in each body cell | Monosomy |
| 45, X Karyotype, 23rd chromosome non-disjunction | Turner Syndrome |
| Effects of Turner Syndrome on a Individual | Broad Shoulders, No breast Development, Narrow Hips, No Menstruation. |
| 47, XXY, Excess X Chromosome | Kleinfelter Syndrome |
| 47, XYY, Excess Y, Chromosome | Jacob's Syndrome |
| Effects of Kleinfelter Syndrome | Little body hair, tall, small testes. |
| Not fully developed testes and spermatocytes | Azoospermia |
| Effects of Jacob Syndrome | Normal physically, Normal mentally, Increase in Testosterone, Perhaps more aggressive |
| Translocation | A segment of one chromosome is transferred to another chromosome |
| 2 types of Translocation | Balanced Reciprocal, Robertsonian Translocation |
| 2 acrocentric chromosomes, the breaks occur close to the centromeres | Robertsonian Translocation |
| Single breaks in each of the chromosomes w/ genetic material exchange, phenotypically normal, high risk for producing abnormal gametes | Balanced Reciprocal |
| Loss of a portion of chromosome, results to a loss of genetic material | Deletion |
| Two types of Deletion: | Interstitial, Terminal |
| 2 chromosome arm breaks, the breaks usually occur within the chromosome, loss of material between breaks fusion of the broken ends | Interstitial |
| 1 chromosome arm break, break occurs at one end of the chromosome | Terminal |
| Results to an extra piece of chromosome, A portion of the chromosome is copied twice | Duplication |
| A portion of 1 chromosome is deleted from its normal place and inserted into a region of another chromosome. Genetic material lost is transferred/added to the other chromosome | Insertion |
| Fragmentation of a chromosome followed by reconstitution with a section inverted | Inversion |
| Two types of Inversion: | Paracentric, Pericentric |
| Involves 1 chromosome arm breaks occurs before the centromere | Paracentric |
| Involves 2 chromosome arm Breaks on opposite side of the centromere | Pericentric |
| Division of chromosome at centromere transversely instead of longitudinally. one arm is lost, Remaining arm is duplicated. (Two long arms, Two short arms) | Isochromosomes |
| Abarrent chromosome whose broken ends have fused together to form a ring. | Ring Chromosome |
| 3 Causes of Down Syndrome: | (Non disjunction, Translocation, Mosaicism) |
| Atrioventricular valve malformations | Cogenital Heart Disease (40%) |
| Duodenal/Esophageal Atresia | Gastrointestinal Anomalies |
| Complete blockage / blind end in the GI tract | Atresia |
| There is no continuity throughout the upper and lower GI tract | Duodenal Atresia |
| The baby throws up milk immediately after intaking it; due to the milk not having a pathway. | Esophageal Atresia |
| 10x20 more common (ALL/AML) Almost all people with down syndrome have this; | Leukemia |
| A french term of cry of the cat; Individuals that have this condition sound like cats; Deletion of about half the short arm of chromosome 5, | Cri du chat |
| Cri du chat symptoms; | Round face, severely mentally retarded, round face, low set ears, has heart disease, low cranium |
| Rate of Cri du chat | 1/1,000,000 live births, 80-85 de novo deletion |
| Karyotype of Cri du chat | 46, XX, XY Chromosome 5 upper arm deletion |
| Prader Willi Statistics | 1/10,000-1/25,000 |
| 65-70% Paternal | Interstitial Deletion 15q12 long arm |
| Symptoms of Prader Willi | Hyperphagia, Obesity, poor sexual development in males |
| Angelman Syndrome | Excessive Laughter - Female Hyperphagia - Male |
| What chromosome is being affect in Prade Willi Syndrome, specifically what arm? | 15, Long arm |
| Karyotyping = | Chromosomal Study - To establish a diagnosis - gold standard |
| Teratogens | An agent or factor that causes malformation of embreyo |
| Simple Teratogens | Cold and Fever, Maternal Illness, DM, Hypertension Epileptic Episodes, Drugs and Toxins, Maternal Infections, Alcohol and Smoking, Ionizing Radiation. |
| Study of Abnormal Form, Assessment of birth defects and unusual physical features that have their origin during embryogenesis. | Dysmorphology |
| Primary Structural defect occurring during the development of a tissue or organ | Malformation |
| Destruction of a fetal part which initially formed normally. | Disruption |
| Refers to a pattern of multiple abnormalities occurring after one initiating defect | Sequence |
| Potter's Syndrome (Fetal Compression and Pulmonary Hypoplasia) | Abnormalities may be traced to one original malformation |
| Huntington Disease | Inherited disorder, gradual breakdown |
| Progeria | Appears 2 years at life. at birth looks normal |
| Dysplasia | Refers to abnormal cellular organization or function of specific tissue types. |
| A group of malformations that occur together more than expected by chance. | Association |
| When a particular set if multiple anomalies, occurs repeatedly in a consistent pattern | Syndrome |
| It is the artificial introduction of genes into disease tissue in order to cure the diseases. | gene therapy |
| Transport medium wherein you put the desired proteins that you want to put inside the cell | Vector |
| Genetic Structures of cells containing DNA | Chromosomes |
| P-arm | Short arm |
| Centromere | Constricted portion of the chromosome. |
| Q-arm | Long arm |
| How are chromosomes labelled? | Chromosome is identified with a number ranging from 1-22, or X and Y, each arm is divided into sub regions and identified by a number. Each Subregion is divided into bands identified with a number |
| The first chromosome (1), long arm(q), second region of the chromosome (2), the fourth band of the sub-region | Ex. 1q2.4 |
| A photographic arrangement of a complete set of chromosomes of a cell or organism | Karyotype |
| Chromosomes are arranged into homologous pairs based on | Size/length, Bonding patterns, location of the centromere. |
| Traditional Types of Staining | G-Q-R Banding |
| G-banding | Giemsa Stain |
| Q-banding | Fluorescent Stain |
| R-Banding | Reverse Giemsa Stain |
| New Type | Fluorescent in Situ Hybridization (FISH) Techniques |
| Homogenous staining by Giemsa, for Mutagenic Study | Classic Method |
| Differentiation of individual chromosomes and their parts, For detection of numerical and structural chromosome abnormalities in clinical cytogenetics | Banding Methods |
| Trypsin or saline solutions, | G-Bands |
| A-T Portion (G-bands) | Dark Bands |
| G-C (G-bands) (hydrogen bonds) | Pale Bands |
| Reverse banding (Reverse to G bands) saline solutions at high temperature to denature the proteins | R-bands |
| G-C (Reverse) | Dark Bands |
| A-T (Reverse) | Pale Bands |
| Strong denaturation of euchromatic parts (HCl, Ba(OH) + Saline solutions at high temperature. In here we denature the euchromatin | C-Banding |
| Information obtained from a Karyotype: | Number of chromosomes, Sex chromosome Content, Presence and absence of individual chromosome, Nature and extent of large structural abnormalities |
| A technique that hybridizes a DNA nucleic acid probe to a target DNA sequence. contained within a cell nucleus.. A variety of specimen types can be analyzed using FISH. The intact cells are attached to a microscope slide using standard cytogenetic methods | FISH (Flourescence in situ Hybridization) |
| Allows one to look at multiple genomic changes within a single cell without the destruction of cellular morphology | FISH for detection single to multiple genetic events |
| Nucleic acid that can be labeled with a marker which allows identification and quantification | Probe |
| Types of labeling | Direct, Indirect, Radioactive, Fluorescent - Non radioactive Isotope |
| Types of FISH process | Centromere, Telomere, Whole Chromosome Paint, Locus |
| Have specificity for a single human chromosome arm, they contain a locus estimated to be within 300kb of the end of the chromosome | Telomeric Probes |
| The hybridized probe fluoresces with bright intensity doing the length of the chromosome. | WCP Chromosome Painting Probes |
| Most are Alpha and Satellite ill Probes, Centromere regions stained brighter - means they are rich in A-T bonds | CEP Chromosome Enumerator Probes |
| Is the formation of a duplex between two complementary sequences. | Hybridization |
| HyBrite - The probe and target DNA are denatured together. | Automated Hybridization |
| Is a means to amplify a particular piece of DNA | PCR (Polyamerase Chain Reaction) |
| PCR is a laboratory version of DNA replication in cells true or false? | True |
| In Vivo | Inside the cell |
| In Vitro | Occurs in Test tubes |
| Catalyzes the elongation of DNA by adding nucleoside triphosphate to the 3 end of the growing strand | DNA Replication Enzymes: DNA Polymerase |
| DNA is a double helix, made up of nucleotides with a sugar-phosphate backbone on the outside of the helix | Complementary Base-Pairing in DNA |
| Sugar group + Phosphate group + Nitrogenous Base | Nucleotide |
| The two strands of DNA in a double helix are anti parallel (i.e they are oriented in opposite directions with one strand oriented from 5' to 3 and the other strand from 3-5' | DNA Replication Enzyme: DNA Ligase |
| DNA polymerase cannot initiate the synthesis of DNA | DNA Replication Enzymes: DNA Primase |
| Untwists the 2 parallel DNA strands (Enzyme) | Helicase |
| Relieves the stress of this twisting (Enzyme) | Topoisomerase |
| Single-Strand Binding Protein: | binds to and stabilizes the unpaired DNA strands |
| Is a genetic disorder characterized by abnormal body movmeent and reduced mental abilities, Caused by mutation in the HD (gene). | Huntington's Disease |
| Retrovirus that attacks the immune system. | HIV |
| Contains the DNA, DNA Polymerase, buffer, nucleoside triphosphate and primers are placed in a thin-walled tube and then these tubes are placed in the PCR thermal cycler. | PCR |
| Disease primarily characterized by uncontrolled cell growth (cellular division/Proliferation) This | Cancer |
| Grow in size but do not invade/destroy surrounding tissue | Benign |
| Examples of Benign | Laryngeal papillomas. |
| Cancer usually means | Malignant |
| _ is prerequisite to malignancy | Invasion |
| Invasive cells tend to spread (often they migrate to areas that are not in direct continuity of the source) | Metastasis |
| Steps in Invasion | Initiation -> Promotion -> Progression |
| Mutations in certain genes (Such as gametes), Heritable | Germline |
| Two types of mutations | Germline, Somatic |
| Wider array of target genes mutations that wouldn't be tolerated during development can occur in somatic cells, Sporadic appearance. | Somatic |
| Any particular substance/time that would cause a genetic mutation. That genetic mutation may or may nor result in cancer. | Mutagens |
| Unidentified Environmental Influences (Example) | Stomach Cancer - Helicobacter pylori Colon Cancer - Sedentary lifestyle |
| Substances, compunds, mixtures or molecules that cause malignant tumors or increase its prevalance. | Carcinogen |
| Carcinogens generally, Any substance, compound, mixture and molecule that alter genetic structure of the gene. | Mutagens |
| Two steps experimental induction of cancer | Initiation = mutagenesis Promotion = mitogenesis |
| Common Carcinogens act as both Initiators and Promotors | Polycrylic Aromatic Hydrocarbons, Alkylating Agents, IndustrialAgents, Metals, Drugs, Food additives, Natural Substances - Aflatoxin B1, Ionizing Radiation |
| Are not Mutagens | Are not mutagens but provoke cell division b activating positive growth signals TPA (PMA) |
| These are an uncommon cause of cancer | Human Tumor Viruses |
| May be STD'S, chronic form may result in hepatocellular carcinoma | Hepatitis B Virus |
| Rare forms of Leukemia, These are Integrative viruses. | HTLV, I Adult T-Cell leukemia/lymphoma, HTLV II Hairy Cell Leukemia. |
| Patients chronically infected with plasmodium | Burkitt's Lymphoma |
| Plasmodium Species | Pertain to Malaria |
| EBV (Epstein Barr Virus) provokes unregulated growth in people chronically infected with Plasmodium species | Herpesvirus |
Created by:
Jahad000
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