Merlyn S. Mendioro
Delayed and Extra-chromosomal Inheritance 1.) Genetic factors that are located outside the chromosome: plasmagenes, plasmons, cytogens, plasmids. 2.) Plasmid inheritance implies: perpetuation through DNA Replication. 3.) Killer gene particulate material in Paramecium aurelia: kappa 4.) Mirabilis jalapa shows extrachromosomal inheritance in the ___________. When a pale male parent is crossed with a green female the result usually is __________. : chloroplast, green 5.) Hereditary mitochondrial diseases are transmitted only through the ____________ line since ______________ can hardly contain mitochondria. : maternal, spermatozoa 6.) Gradual loss of the ability to control eye movement: Progressive External Ophthalmoplegia 7.) Occurs during childhood characterized by a combination of anemia, reduction of all blood cells, dysfunction of the pancreas, liver and kidneys: Pearson Syndrome 8.) Cytoplasmic nuclear male sterility: 9.) Mothers transmit virus-like particles called sigma. What is this? Infective Heredity 10.) Extrachromosomal particles/plasmids free of the host organism or integral of the organism chromosome that are infective. For example E. Coli’s fertility trait. Episomes 11.) What are the different criteria for extrachromosomal inheritance?: Difference in reciprocal cross results, Maternal Inheritance, Non-mappability, Non-segregation, Non-Mendelian Segregation, Indifference to nuclear substitution, Infection-like transmission
11a.) Difference in reciprocal crosses – if the normal cross is equal to the reciprocal cross
Maternal inheritance – if the traits are mainly from the mothers because of the cytoplasm contributed.
Non-mappability – the extra-chromosomal gene cannot be mapped.
Non-segregation – failure to show segregation merits extrachromosomal heredity
Non-Mendelian Segregation – does not follow Mendelian proportions.
Indifference to nuclear substitution – when characteristic persists in presence of nuclear transmission. Extrachromosomal inheritance comes into play.
Infection-like transmission – transmitted without nuclear transmission, IT IS Extrachromosomal.
Quantitative Genetics 1.) A quantitative trait is _________. Quantitative effects are __________ if they can be added to produce phenotypes, the sum total of the negative and positive effects of individual ____________: polygenic, additive, polygenes 2.) The several basic assumptions for polygene hypothesis:
Gene determining quantitative traits = Gene determining qualitative traits only that the former has NO INDIVIDUALLY RECOGNIZED PHENOTYPIC EFFECT
Series of genes independent of one another governs a quantitative trait
Genes have cumulative effect
Dominance is ordinarily absent
The F1 appears intermediate of the parents
There is an appreciable influence of the environment on the expression of the trait
The only adequate system of classification is through measurement of the trait
3.) Contributory effect per allele = large phenotype-smallest phenotype2n
4.) Finding the frequency of each combination: Use binomial distribution or Pascal Triangle 5.) (a+b)2n , where n is the number of gene pairs, 2n is the number of alleles. 6.) Problem Solving I: The gene AA controls for the phenotype of length of corn. Three genes are responsible for the length of corn. The longest measurement of corn in a sample of 1000 is 130cm while the shortest is 24 cm. Find all the possible progenies of the parent corn and their respective measurements. Include their frequencies.
130 cm – 24 cm = 106 cm
106cm / 6 alleles = 17.67 cm per allele
Gene | aaaaaa | Aaaaaa | AAaaaa | AAAaaa | AAAAaa | AAAAAa | AAAAAA | Length | 24cm | 41.67cm | 59.34cm | 77.01cm | 94.68cm | 112.35cm | 130.02cm | Frequency | 1/64 | 6/64 | 15/64 | 20/64 | 15/64 | 6/64 | 1/64 |
7.) Finding the gene pairs:
8.) The tendency of the offspring of extreme parents to deviate from the mean by a lesser amount than their parents. Regression 9.) There will be no regression if there is no dominance, no epistasis, and no environmental effects. True 10.) Number of facets in Bar-eyed Drosophila is a gene effect specifically? Multiplying effects 11.) The measure of resemblance between relatives is called? Heritability 12.) Why is heritability in the narrow sense important to plant breeders?
Because it indicates that the selection of parents bearing particular measurements that are favorable will produce offspring of similar phenotype. They want favorable traits to be passed on to the next generation as intact. 13.) Why is heritability in the broad sense important to human geneticists? Because they want to know how much an individual’s phenotype is affected by his genotype. They want to assess the relative influence of the genotype and environmental factors. Population Genetics 1.) It studies the genetic constitution of populations and how this genetic constitution changes from generation to generation. Population Genetics 2.) A community of sexually interbreeding or potentially interbreeding individuals sharing a common gene pool. Population 3.) Refer to the proportions of the different alleles of a gene in a population. Gene frequencies. 4.) The sum total of genes in the reproductive gametes of all the individuals in a population. Gene Pool 5.) The formulators of the Hardy Weinberg are: Godfrey Hardy and Wilhelm Weinberg 6.) State the Hardy-Weinberg Equilibrium: The frequency of the dominant and recessive alleles remained constant at whatever value applied to the previous generation. 7.) State the factors that disrupt the Hardy-Weinberg Equilibrium: Mutation, Selection, Migration, Genetic Drift 8.) Mutation occurs only in one direction, False 9.) What are the three basic kinds of selective effects? Stabilizing Selection – tends to eliminate the phenotypic extremes Directional Selection – one of the extremes in the phenotypic range becomes most fit and thus it is preserved. Disruptive Selection – Both extremes of the phenotypic range are selected for. 10.) Selection is both a long term and a short term process. True 11.) The reproductive success of one phenotype as opposed to alternative phenotypes. Fitness 12.) The force acting upon a phenotype to reduce its fitness or adaptive value. Selection Pressure. 13.) Selection against a genotype may occur either in gametes or in zygotes. True 14.) In this selection, there is no difference between the dominant and the recessive alleles since both genotypes are phenotypically expressed. Gametic Selection 15.) In this selection, three possible genotypes for a single gene difference are observed. Zygotic Selection. 16.) A situation where two or more forms of a population coexist in the same habitat in such a proportion that even the least frequent form could not have been due to mutation. Balanced Polymorphism 17.) A type of assortative (non-random) mating where mates are more closely related to each other. Inbreeding 18.) This is where inbreeding brings out deleterious recessive genes that were previously concealed by their dominant alleles. Inbreeding Depression 18a.) Sample Question: Why is human mating in relatives forbidden by law? Because of deleterious recessive infirmities. There is a large chance for a concealed gene say lethal gene to be expressed when you breed with a relative rather than random mating individuals. 19.) The effects of inbreeding depression can be reversed by? Hybridization 20.) Hybrids show marked increase in fitness: increased size, fertility etc. This is called as? Hybrid Vigor/Heterosis. 21.) When there is migration, two factors are important to the recipient population. What are they? The difference in gene frequencies between two populations and the proportion of migrant genes that are incorporated each generation are the two factors. 22.) A non-directional force that changes gene frequency in an unpredictable rate from generation to generation. Genetic Drift 23.) The number of parents in the population which is important in determining genetic drift. Effective Population Size 24.) Severe reduction in population size due to a deleterious, external event. Bottleneck 25.) A small part of the population moves to an uninhabited area. Founder’s Effect. 26.) Defined as populations of organisms that differ in the relative frequency of some genes or genetically distinct populations of the same species. Races 27.) Defined as a group of interbreeding natural populations that are reproductively isolated from other such groups. Species 28.) In separate groups (Allopatric) or within an area of overlap (Sympatric), speciation can take place by chance. 29.) Prevent the formation of hybrid zygotes. These include ecological, temporal, behavioral, mechanical and gametic isolation. Prezygotic barriers. 30.) Consequences of genetic incompatibilities or nuclear-cytoplasmic irregularities. Postzygotic Barriers. 31.) 5 Types of Isolation (Pre-Zygotic Barrier): Habitat Isolation, Temporal Isolation, Behavioral Isolation, Mechanical Isolation, Gametic Isolation. Habitat Isolation – organism, isolated from others by habitat. Temporal Isolation – organism, is not in right time for reproduction. The mates are only reproducing in other timeframes. Behavioral Isolation – Sexual attraction is weak or absent between sexes. Mechanical Isolation – Pollen, gametic transfer is rendered physically impossible because of differences in size or structure of the reproductive organs. Gametic Isolation – The male and female gametes fail to fuse or the spermatozoa or pollen are inviable. 32.) 3 Kinds of Post-Zygotic Barriers. Hybrid Inviability – hybrid zygotes fail to develop, or fail to reach sexual maturity. Hybrid Sterility – hybrids fail to produce functional gametes. Hybrid Breakdown – The viability or fertility of the hybrids is greatly reduced. 33.) Speciation that is faster which are due to chromosomal changes. Rapid Speciation Human Genetics 1.) The affected individual through whom the pedigree is discussed. Proband 2.) 22II + XX/XY + I21/Trisomy 21 Down’s Syndrome 3.) 22II + XX/XY + I16,17,or18, or Trisomy in either 16, 17, 18th chromosome. E Trisomy 4.) 22II + XX/XY + I13,14,or15 or Trisomy in either 13, 14, 15th chromosome. D Trisomy 5.) Sex chromosome Aneuploid. 22II + XO. 99% of affected fetuses die before birth. Sexually Infantile. Turner’s Syndrome 6.) 22II + XXY. Mental Retardation, Rambling talkativeness, dependent, submissive, rudimentary testes. Klinefelter’s Syndrome 7.) 22II + XXX. Tallness, menstrual irregularities, Subnormal Mental Abilities. Triplo X Syndrome 8.) 22II + XYY. Violent Behavior. Acne. Speech and Reading Problems. Jacob Syndrome 9.) 22II + Xy. Has both ovary and testes. Mentally retarded. Has congenital anomalies. Hermaphrotidism 10.) 5p-. Deletion on the terminal end of the 5th Chromosome. Small Epiglottis. Cat-like cry. Cri-du-chat Syndrome 11.) No dystrophin synthesized. Deletion of a small segment in X chromosome. Duchenne Muscular Dystrophy 12.) Lesser dystrophin synthesized. Becker Muscular Dystrophy 13.) Reciprocal translation of chromosomes 2 and 20. Alagille Syndrome. 14.) Translocation involving chromosomes 9 and 22 resulting in chronic myelogenous leukemia. Philadelphia chromosomes. 15.) Genes that convert normal cells into cancer cells. Oncogenes 16.) Accumulation of galactose in blood. Consequences include muscle weakness, mental retardation, and liver disease. Galactosemia. 17.) Resistance to malaria but has severe hemolytic anemia. Favism/Primaquine Sensitivity. 18.) PKU stands for. Phenylketonuria. 19.) Normal hemoglobin A is replaced by abnormal hemoglobin S. Substitution of amino acid valine for glutamic acid. Sickle Cell Anemia. 20.) Persistence of fetal hemoglobin. Too few beta globin chains. Thalassemia. 21.) Caused by a deletion of a single amino acid of the CFTR. Lung infection. Pancreatic insufficiency. Cystic Fibrosis. 22.) Predisposition to allergy was found out in a single dominant gene in the long arm of? Chromosome 11 23.) Loss of ability to organize thoughts. Was found out to have a heritability of 80%. A normal person can have this by living with someone who has this. Schizophrenia 24.) 2 Common Eating Disorders. Anorexia Nervosa/Bulimia Nervosa 25.) Eating disorder where males see themselves as too small and they take more amino acid. Bigorexia/Muscle Dysmorphia. 26.) Has a high heritability of 40-60%. Gene for dopamine contributes to this too. Drug Addiction 27.) Environmental effect on IQ declines as an individual advances in age. The heritability of an adult IQ is 80%. True 28.) The candidate gene for intelligence. N-CAM (Neural Cellular Adhesion Molecule) 29.) The candidate chromosome for intelligence. 4 30.) Republic Act No. 9288. Newborn Screening Act 31.) Disorders included in Newborn Screening: Congenital Hyperthyroidism
Congenital Adrenal Hyperplasia
Galactosemia
Phenylketonuria
Glucose 6-Phosphate Dehydrogenase Deficiency
Genetic Engineering and Biotechnology 1.) Steps in Recombinant DNA Technology. Restriction Endonuclease/DNA Ligase Cloning Vehicle/Vector Functional Host Multiplication of Recipient Cells. 2.) Initial success of Recombinant DNA Technology. Insulin in E.Coli 3.) HUGO stands for. Human Genome Mapping Organization 4.) The technique of DNA fingerprinting involves the use of. Restriction Fragment Length Polymorphisms 5.) DNA Markers Useful in Genome Mapping RFLP
Tandem Nucleotide Repeat Markers
Polymerase Chain Reaction Based Marker Random Amplified Polymorphic DNA Simple Sequence Repeat (SSR) Single Nucleotide Polymorphism 6.) Executive Order 514 series of 2006 established? National Biosafety Framework 7.) NCBP stands for. National Committee on Biosafety of the Philippines. Bonus Questions on Human Genetics 1.) People with urine that smells like Maple Syrup. Maple Syrup Urine Disease 2.) Have formation of plaque on the inner wall of coronary arteries. Angina. Arrythmia. Heart Failure. Shortness of Breath. Coronary Heart Disease 3.) Manifested absence of polyuria, normal/slightly decreased concentrating urine ability. Autosomal Recessive. Gitelman’s Syndrome 4.) Microcephally. Synephrys. Thick Eyelashes. Short Upturned nose. Downturned lips. 1 to 10,000 to 30,000. Cornelia de Lange Syndrome 5.) Neurodevelopmental disorder that affects girls exclusively. Has 4 stages. Last stage is scoliosis and the loss of walking ability. Rett Syndrome 6.) Experience accumulation of glycogen that leads to progressive weakness of the muscles. Ventilator dependence. Pompe Disease 7.) Mean age of 36. Mean survival after diagnosis is 2.8 years. Dyspnea. Fatigue. Syncope. Chest Pain. Edema. Familial Pulmonary Arterial Hypertension (FPAH) 8.) Has a multifactorial inheritance pattern. Chronic disease characterized by recurrent attack of breathlessness and wheezing. Allergic and Respiratory Asthma 9.) Excessive Hunger. Excessive thirst. Frequent Urination. Weight Loss. Diabetes Mellitus Type 2 10.) Nearsightedness or shortsightedness. Myopia 11.) Autoimmune disease that can affect any part of the body. It is caused by the malfunction of the immune system. Systemic Lupus Erythematosus (SLE) 12.) Bloating. Stomach Cramps. Flatulence. Slight Nausea. Diarrhea upon intake of lactose. Lactose Intolerance 13.) Neurodegenerative disease that commonly affects people over the age of 60. Parkinson’s Disorder 14.) Sporadic, non-contagious multifactorial disease in which progressive, patchy or loss of pigmentation of skin, overlying hair, and often mucous membranes. Vitiligo 15.) Congenital Paresis (Paralysis of the Face). Inability to suck. Excessive Drooling. Moebius Syndrome 16.) Small head circumference, high pitched cry, seizures increased. Microcephally 17.) Average intelligence. Speaking in monotone. Develop intense interest in a particular subject. Asperger Syndrome 18.) Generalized blistering and mucosal involvement present at birth. Non Herlitz Junctional Epidemolysis Bullosa 19.) Manifestations of bone fracture, without known trauma, bone deformity and blue sclera. Osteogenesis Imperfecta
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