Genetics - Final - Part 1

davidwurbel7's version from 2015-04-22 04:02


Question Answer
The APOE gene is located on chromosome19
Two related individuals in a family have the same COMPLEX diseaseConcordant
When only one family member of a pair of relatives is affected with a COMPLEX diseaseDiscordant
DQβ1*0201 allele, segregates withDR3
DQβ1*0302 allele segregates withDR4
Oral contraceptives (OC) increase blood levels of prothrombin (coagulation factor II) and factor X (10) as well as a number of other coagulation factors. The hypercoagulable state can be explained as a synergistic interaction inEnvironmental Factors
Missense mutation in Factor V Leiden, (FVL) Arg506Gln Protein more stable can be explained as a synergistic interaction inGenetic Factors
Mutation in 3’ UTR 20210G>A Stabilizes the mRNA in prothrombin (coagulation factor II) can be explained as a synergistic interaction inGenetic Factors
MBL-2 (mannose-binding lectin) & TGF-Beta are examples of what king of genes.Modifier Genes
A plasma protein in the innate immune system that binds to carbohydrates on the surface of many pathogenic organisms and aids in their destruction by phagocytosis and complement activation. If it is defective or found in lower levels in the blood stream, containing respiratory infections and inflammation could be difficultMBL2–mannose-binding lectin
Neural tube defects, Cleft lip with or without cleft palate, Congenital heart malformations are consideredMultifactorial (or complex) Congenital Malformations
Cleft Lip and Palate, Congenital Heart Defects and Coronary Artery Disease (CAD) are consideredMultifactorial (or complex) Congenital Malformations
Congenital birth defects, Myocardial infarction, Cancer, Mental illness, Diabetes and Alzheimer disease are considered what kind of inheritanceMultifactorial (or complex) Inheritance Pattern
Disorders that results from complex interactions between a number of genetic and environmental factorsMultifactorial (or complex) Inheritance Pattern
Modifier genes that promote heterozygote advantage for TB and CholeraTGF-Beta
Beta2-microglobulin expressed on all nucleated cells as part of the MHC Class 1 genes (HLA-A, HLA-B, & HLA-C) is located on which chromosome15
What is the most common enzyme deficiency in congenital adrenal hyperplasia (CAH) resulting in female pseudohermaphroditism21-OH (21-hydroxylase)
The heterozygous genotype in the Hardy-Weinberg Law2pq
Gene frequency that measures the proportion of chromosomes that contain a specific allele (gene)Allele frequency
Type of serum antibody would someone of blood type B, genotype B/B, B/O haveAnti-A
What type of serum antibody would someone of blood type O, genotype O/OAnti A, Anti-B
Type of serum antibody would someone of blood type A, genotype A/A, A/O haveAnti-B
What type of serum antibody would someone of blood type A, genotype A/A, A/O haveAnti-B
Which antibodies cross the placenta and cause the RBCs of the fetus to lyse producing anemia in the fetus (often not apparent until the child is born) and leads to hemolytic disease of the newborn.Anti-Rh antibodies (IgG)
Copy number polymorphisms (CNPs)-consist of variation in the number of copies of larger genomic segments ranging from 200 bp to nearly 2 Mb. What method can be used to identify theseArray Comparative Genome Hybridization
Is a nonrandom mating pattern when a mate is chosen because they possess a particular traitAssortative Mating
( q = √ I ) is the formula for which disorders in the Hardy-Weinberg LawAutosomal Recessive
( q = ½ x I ) is the formula for which disorders in the Hardy-Weinberg LawAutosomal Dominant
What confers resistance to HIV infectionCCR5 Cytokine Receptor Gene
Alter the structure of individual chromosomes, one rearrangement per 1,700 cell divisionsChromosome mutations
Brings about an increase in the frequency of autosomal recessive diseasesConsanguinity
Stratification, Assortative mating, consanguinity, mutation and selection, genetic drift and gene flow are factors thatDisturb Hardy-Weinberg Equilibrium
Point Mutations occur mostly in which parental germlineFather
The CGG repeat in fragile X syndrome nearly always occurs duringFemale Gametogenesis
Myotonic dystrophy with the CTG in the 3’-UTR of the DMPK gene occurs duringFemale Gametogenesis
The loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. As a result of the loss of genetic variation, the new population may be distinctively different, both genetically and phenotypically, from the parent population from which it is derived.Founder effect
Ellis-van Creveld (EVC) Syndrome, a very rare AR disorder seen with increased frequency in some Amish groups. This is due toFounder Effect
Both the single-base pair deletion and insertion lead to a _________ in which the translational reading frame is altered.Frameshift Mutation
Refers to the slow diffusion of genes across a barrier (migration)Gene flow
Alter individual genes ranging from a change in a single nucleotide to changes affecting millions of base pairsGene Mutations
Is the fluctuation in allele frequency due to chance operating on the small gene pool contained within a small population.Genetic Drift
Defined as the occurrence of at least 2 variant alleles at a locus, each found on chromosomes with >1% frequency in the populationGenetic Polymorphisms
Have a rate of one missegregation event per 25 to 50 meiotic divisions; affect the number of chromosomes in the cell and alters the dosage and expression level of 100’s to 1,000’s of genesGenome Mutations
Measures the proportion of each genotype in a population (how the alleles are distributed among homozygotes and heterozygotes)Genotype frequency
The gene on chromosome 9q that codes and produces the ABO blood groups codes for whatGlycosyltransferase
p2 + 2pq + q2Hardy-Weinberg Law
The primary determinants of transplant tolerance and graft rejectionHLA loci
Although certain mutant alleles may be deleterious in homozygotes, there may be environmental conditions in which heterozygotes for some diseases have increased fitness not only over homozygotes for the mutant allele but also over homozygotes for the normal allele, a situation termed heterozygote advantage.Heterozygote Advantage
30% of all single nucleotide substitutions are due to spontaneous deamination of 5-methylcytosine to thymine in CG doubletsHotspots
The genetic locus that is the principal determinant of acceptance or rejection of tissue grafts exchanged between individuals, that is located on chromosome 6Major Histocompatibility Complex
Stretches of DNA consisting of units of two, three, or four nucleotides repeated between one and a few dozen times. They Microsatellites
The FBI uses this to track killers down that leave blood at the scene of a crimeMicrosatellites (Short Tandem Repeat Polymorphisms or STRPs)
Insertion, in tandem, of varying numbers (usually in the hundreds to thousands) of copies of a DNA sequence 10 to 100 base pairs in length.Minisatellite
Mutations convert an amino acid codon into a codon for a different amino acidMissense Mutations
Defined as any change in the nucleotide sequence or arrangement of DNA.Mutation
Means you chose a person unlike yourself (occurs less frequently)Negative Assortative Mating
What type of serum antibody would someone of blood type A/B haveNeither (no blood antibodies)
Mutations that convert amino acid-coding codons into (premature) stop codonsNonsense Mutations
Convert a normal stop codon into an amino acid codon (Hemoglobin Constant Spring in the a-globin gene)Nonstop Mutations
The wild-type (normal) allele in the Hardy-Weinberg LawP
The homozygous normal genotype in the Hardy-Weinberg LawP2 (P squared)
With juvenile Huntington disease the very large expansions of the CAG repeat are generally ofPaternal in origin
With Duchenne muscular dystrophy, ~90% of all new point mutations arePaternal in origin
Mating means you chose a person like yourself (usually the case) on the basis of phenotype (observable characteristics)Positive Assortative Mating
Peptide antigens are generated by proteolytic degradation by theProteasome (LMP, large multifunctional protease)
The mutant allele in the Hardy-Weinberg LawQ
The homozygous mutant genotype allele in the Hardy-Weinberg LawQ2 (q squared)
Mutations which alter the codon sequence but NOT the amino acidSilent Mutations
Microsatellite polymorphisms have different numbers of repeated nucleotide units contained within any one microsatellite and are referred to asShort Tandem Repeat Polymorphisms or STRPs.
When a subgroup of a population remains genetically distinct from the rest of the population (Amish, Hutterites, Jews, Moslems, Chinese, Italians, French, etc.)Stratification
Which MHC molecule is bound to an invariant chain protein (Ii) which must be removed by the DM protein to allow the MHC molecule to bind peptide antigens located within the endosomesMHC Class II genes (HLA-DP, HLA-DQ, and HLA-DR)
Affected homozygotes have severe anemia whereas unaffected homozygotes are prone to infection with the malarial parasite. In these communities, the frequencies of heterozygotes (sickle cell trait) tend to increase relative to those of normal and affected homozygotesSickle Cell Disease
In malaria endemic areas (e.g. West Africa) the heterozygotes with this disease will are relatively immune to infection with Plasmodium falciparum, due to heterozygote advantage.Sickle Cell Disease
This blood type is due to an allele that produces a glycosyltransferase that adds N-acetylgalactosamine to the H antigen, a glycoprotein on the surface of RBCs.Type A
The universal recipient blood groupType A/B
This blood type is a result of another allelic form of the gene which does not produce a functional transferase, so no sugar is added to the H antigen.Type O
This blood type allele results from a frameshift mutation that eliminates the transferase activity.Type O
This blood type is a result of a different allele of the same gene that adds D-galactose to the H antigen.Type B
This is a recessive blood type that is also the universal donorType O blood group
Purine -> Purine; or Pyrimidine -> PyrimidineTransition
Purine -> Pyrimidine; or Pyrimidine -> PurineTransversion
These ____________have many alleles due to variation in the number of copies the minisatellite is repeated in tandem.Variable Number of Tandem Repeats (VNTRs)
( I = q ) is the formula for which disorders in the Hardy-Weinberg LawX- linked Recessive
May change the reading frame (frameshift mutation) resulting in changes in the amino acid sequence, if the number of bases deleted/ inserted is not a multiple of three Insertion or Deletion Mutations
Tightly linked-the two loci are very close togetherθ = 0
Unlinked-the two loci are far apart and assorting independently.θ = 0.5
What Nonparametric LOD (NPL) score is considered evidence for increased allele sharing3.6 or greater
What Nonparametric LOD (NPL) score is considered STRONG evidence for increased allele sharing5.4 or greater
What are the two major approaches are used to locate and identify genes that predispose to complex diseases. Both methods are model-free (or nonparametric) as they do not assume any particular mode of inheritance or number of loci involved that contribute to the traitAffected pedigree member method-type & Association
A major approaches used to locate and identify genes that predispose to complex diseases that looks for increased frequency of particular alleles in affected versus unaffected individuals in the populationAssociation
What would you use to treat Crohn Diseases during the acute phase of the disease, the mainstay of therapy areCorticosteroids.
Describes two loci that are located close enough on the same chromosome that their recombination frequency is less than 50% (departure from independent assortment)Linkage
A method of mapping genes that uses family studies to determine if two loci show linkage when passed from one generation to the next. This method is model-based (or parametric) when it assumes a particular mode of inheritanceLinkage Analysis
When the frequency of each allele within the haplotypes is the same as the frequency of that allele in the population as a whole. There is a lack of preferential association of alleles at the two loci.Linkage Equilibrium
Nonrandom association of alleles at linked loci in populationsLinkage Disequilibrium (LD)
A result of genetic distance (θ) and the amount of time (number of generations)Linkage Disequilibrium
What LOD score is considered definitive evidence that two loci are linked LOD Score of +3 or greater (1,000/1 odds in favor of linkage)
What LOD score are taken as evidence that the two loci are not linkedLOD Scores lower than -2
Gives a best estimate of the recombination frequency, θmax, between a marker locus and the disease locusLogarithm Of the Odds (LOD Score (Z))
A statistical estimate of whether two loci are likely to lie near each other on a chromosome and are therefore likely to be inherited together.Logarithm Of the Odds (LOD) Score
Analysis is used to assess how strong the evidence for increased allele sharing is near polymorphic markersNonparametric LOD (NPL) Score
What binds to gram-negative bacterial cell walls and participates in the inflammatory response to bacteria by activating the NF-κB transcription factor in mononuclear leukocytesNOD2 (“Nucleotide-binding Oligomerization Domain containing 2”) Protein
Designated θ (theta) -> varies from 0 (no recombination at all) to 0.5 (independent assortment). The smaller the frequency, the closer together the two loci are.Recombination Frequency
Which chromosome is the β and β-like chains of the hemoglobin located onChromosome 11
Which chromosome is the α and α-like chains of the hemoglobin located onChromosome 16