Cell Biology and Genetics, Exams of Pathophysiology

Download Cell Biology and Genetics and more Exams Pathophysiology in PDF only on Docsity! NURS 6501-Advanced Pathophysiology Quiz 1 Latest Exam 135 Questions with Answers. 1) How are cells specialized? - Correct answer through the process of differentiation or maturation 2) What are the eight specialized cellular functions? - Correct answer movement, conductivity, metabolic absorption, secretion, excretion, respiration, reproduction, and communication 3) What are the three general components of a eukaryotic cell? - Correct answer the plasma membrane, the cytoplasm, and the intracellular organelles. 4) What causes the release of lysosome enzymes? - Correct answer Cellular injury causing cellular self-digestion 5) What is the location and function of the nucleus? - Correct answer the largest membrane-bound organelle and is found usually in the cell's center. The chief functions of the nucleus are cell division and control of genetic information. 6) What is Cytoplasm? - Correct answer an aqueous solution (cytosol) that fills the space between the nucleus and the plasma membrane. 7) What is the endoplasmic reticulum and what does it specialize in? - Correct answer a network of tubular channels (cisternae) that extend throughout the outer nuclear membrane. It specializes in the synthesis and transport of protein and lipid components of most of the organelles 8) What is the Golgi complex and what does it do? - Correct answer a network of smooth membranes and vesicles located near the nucleus. The Golgi complex is responsible for processing and packaging proteins into secretory vesicles 9) What are lysosomes and what do they do? - Correct answer saclike structures that originate from the Golgi complex and contain digestive enzymes. These enzymes are responsible for digesting most cellular substances to their basic form, such as amino acids, fatty acids, and carbohydrates 10)What are peroxisomes? - Correct answer involved in the production and breakdown of hydrogen peroxide P a g e 1 | 12 11)Importance of proteins in disease - Correct answer the major workhorses of the cell, if misfiled they can cause diseases 12)What are mitochondria responsible for? - Correct answer. Mitochondria contain the metabolic machinery necessary for cellular energy metabolism (Makes ATP). 13)What is the cytoskeleton? - Correct answer the "bone and muscle" of the cell. The internal skeleton is composed of a network of protein filaments, including microtubules and actin filaments (microfilaments). 14)What is the plasma membrane? - Correct answer encloses the cell and, by controlling the movement of substances across it, exerts a powerful influence on metabolic pathways 15)What is signal transduction? - Correct answer the transfer of molecular signals from the exterior to the interior of a cell. If not done apoptosis occurs 16)What is protein regulation and what is it composed of? - Correct answer protein homeostasis and is defined by the proteostasis network. This network is composed of ribosomes (makers), chaperones (helpers), and protein breakdown or proteolysis systems. Malfunction of these systems is associated with disease. 17)What do protein receptors do? - Correct answer on the plasma membrane, enable the cell to interact with other cells and with extracellular substances 18)What means accomplish cell-to-cell adhesions? - Correct answer (1) the extracellular membrane, (2) cell adhesion molecules in the cell's plasma membrane, and (3) specialized cell junctions. 19)What makes up the extracellular matrix and what does it do? - Correct answer (1) fibrous structural proteins (collagen and elastin), (2) adhesive glycoproteins, and (3) proteoglycans and hyaluronic acid. The matrix helps regulate cell growth, movement, and differentiation. 20)How do cells communicate? - Correct answer (1) they form protein channels (gap junctions); (2) they display receptors that affect intracellular processes or other cells in direct physical contact; and (3) they use receptor proteins inside the target cell. 21)How is intercellular signaling done? - Correct answer contact-dependent, paracrine, hormonal, neurohormonal, and neurotransmitter. P a g e 2 | 12 45)What is DNA composed of? - Correct answer deoxyribose, a phosphate molecule, and four types of nitrogenous bases. The physical structure of DNA is a double helix 46)What does DNA polymerase do? - Correct answer Joins individual nucleotides to make complementary strands and proofreads the sequence of bases and corrects errors 47)What is transcription? - Correct answer the process of making RNA from DNA 48)What is translation? - Correct answer the decoding of an mRNA message into a protein 49)What are diploid somatic cells? - Correct answer Body Cells 50)What are haploid gametes? - Correct answer sperm and egg cells 51)What is a karyotype? - Correct answer a display of every pair of homologous chromosomes within a cell, organized according to size and shape 52)How common are chromosome abnormalities? - Correct answer 1 in 150 live births, leading cause of mental retardation and miscarriage 53)What is polyploidy? - Correct answer condition in which an organism has extra sets of chromosomes 54)What is aneuploidy? - Correct answer abnormal number of chromosomes. 55)What is trisomy? - Correct answer 3 copies of a chromosome 56)What is monopsony? - Correct answer missing one chromosome 57)What are alleles? - Correct answer different versions of the same gene 58)Compare monopolies and trioses - Correct answer monopolies cause more severe physical defects than do trisomy’s, illustrating the principle that the loss of chromosome material has more severe consequences than the duplication of chromosome material. 59)What are the four abnormalities of chromosome structures? - Correct answer deletions, duplications, inversions, and translocations. P a g e 5 | 12 60)What is a locus? - Correct answer the precise location of a gene on a chromosome 61)What is genomic imprinting? - Correct answer the silencing of a gene that is 'stamped' with an imprint during gamete production. 62)What is epigenetics? - Correct answer the study of how the environment affects which genes are expressed 63)Recurrence risk for autosomal dominant diseases - Correct answer 50% 64)Recurrence risk for autosomal recessive diseases - Correct answer 25% 65)What is consanguinity? - Correct answer marriage between blood relatives 66)What gene determines sex? - Correct answer SRY gene, typically on the Y chromosome. If a Y chromosome lacks SRY gene an XY female can be produced, also if an X chromosome has an SRY gene an XX male may be produced 67)What is a sex-influenced trait? - Correct answer sex influenced inheritance are genetic trends based on sex 68)-i.e. gene that expresses for baldness in men does not for women 69)Why would X-linked recessive genes be seen more in males? - Correct answer because males need only one copy of the gene to express the disease 70)Why are skipped generation diseases seen in X-linked diseases? - Correct answer Biologic fathers cannot pass X-linked genes to their sons and the gene can be transmitted through carrier females 71)What is a sex limited characteristic? - Correct answer one that occurs only in one sex 72)What are polygenic traits? - Correct answer traits that are controlled by two or more genes 73)Prediction of disease - Correct answer a marker locus, when closely linked to a disease-gene locus, can be used to predict whether an individual will develop a genetic disease. P a g e 6 | 12 74)What are multifactorial traits? - Correct answer traits that depend on multiple genes combined with environmental influences 75)What is cellular adaptation? - Correct answer a reversible, structural, or functional response both to normal or physiologic conditions and to adverse or pathologic conditions 76)What is the threshold of liability? - Correct answer in many multifactorial traits, once the threshold of liability has been crossed, the disease may be expressed. 77)What is atrophy? - Correct answer decrease in cell size 78)What are the most commonly seen adaptive cell changes? - Correct answer atrophy, hypertrophy, hyperplasia, and metaplasia. 79)What is hypertrophy? - Correct answer increase in cell size 80)What mechanisms cause atrophy? - Correct answer include decreased protein synthesis, increased protein catabolism, or both 81)What is hyperplasia? - Correct answer increase in number of cells caused by increased rate of cellular division 82)What happens with hypertrophy? - Correct answer the amounts of protein in the plasma membrane, ER, microfilaments, and mitochondria increase 83)What is metaplasia? - Correct answer a change in stress on an organ that leads to a change in cell type 84)Most commonly involves a change of one type of surface epithelium to another 85)*met aplastic cells are better able to handle the new stress 86)Metaplasia occurs via reprogramming of stem cells which then produce the new cell type 87)What are free radicals? - Correct answer unstable oxygen-containing molecules that can damage the cells of the body and possibly contribute to the increased risk of chronic diseases 88)What is dysplasia? - Correct answer an abnormal change in the size, shape, and organization of mature tissue cells. It is considered atypical rather than a true adaptation change. P a g e 7 | 12 109) What are some important factors in aging? - Correct answer increased damage to the cell, reduced capacity to divide, reduced ability to repair damaged DNA, and increased likelihood of defective protein balance or homeostasis. 110) What is sarcopenia? - Correct answer loss of muscle mass and strength 111) What is cachexia? - Correct answer weakness and wasting of the body due to severe chronic illness 112) What is somatic death? - Correct answer death of the entire organism 113) What is ontogenesis imperfect? - Correct answer caused by pathogenic variants (formerly termed "mutations") in collagen genes 114) Cause of genetic disease? - Correct answer a change in the sequence or cellular content of DNA that ultimately deranges gene expression, deletion of a group of genes or an abnormal number of chromosomes 115) Most genetic disorders affect all cells why? - Correct answer it is inherited from a mutant egg or sperm 116) When a genetic disorder does not affect all cells what is it? - Correct answer a mosaic because it occurred during gestation 117) What us an alleles? - Correct answer slight differences seen in a genes DNA sequence across a population 118) What is a variant and what modifiers are used? - Correct answer term to define a change in DNA sequence from the population norm and is used with the following modifiers: "pathogenic," "likely pathogenic," "uncertain significance," "likely benign," and "benign." 119) What is a single nucleotide variant? - Correct answer a single base pair change has occurred 120) What is a phenotype? - Correct answer any characteristic that can be measured, with the type of measurement depending on the characteristic 121) What are molecular biologic phenotypes? - Correct answer can be detected only with a laboratory test P a g e 10 | 12 122) What is penetrance? - Correct answer the percentage of individuals having a particular genotype that express the expected phenotype 123) What is fitness? - Correct answer how well an organism can survive and reproduce in its environment 124) What is variable expressivity? - Correct answer the same altered gene giving rise to a spectrum of different phenotypes 125) What is a neutral effect on gene activity? - Correct answer no effect 126) What is an am orphic variant effect on gene activity? - Correct answer complete loss of function 127) What is a holomorphic variant effect on gene activity? - Correct answer Partial loss of function 128) What is a hyper orphic variant effect on gene activity? - Correct answer gain of function 129) What is a geomorphic variant effect on gene activity? - Correct answer acquires a new property 130) What is hemizygosity? - Correct answer a recessive inheritance that emerges in a male due to only having one X chromosome 131) What is type 1 ontogenesis imperfect? - Correct answer mild-Short stature, postnatal fractures, little or no deformity, blue scleras, and premature hearing loss 132) What is type II ontogenesis imperfect? - Correct answer perinatal lethal- severe prenatal fractures, abnormal bone formation, severe deformities, blue scleras, connective tissue fragility 133) What is type III osteogensis imperfect? - Correct answer progressive deforming- prenatal fractures, deformities present at birth, very short stature, usually no ambulatory, blue sclera’s, hearing loss 134) What is type IV ontogenesis imperfect? - Correct answer deforming with normal sclera’s- postnatal fractures, mild to moderate deformities, premature hearing loss, normal or grey sclera’s, dental abnormalities P a g e 11 | 12 135) What does ontogenesis imperfect impact? - Correct answer type I collagen found in the dermis, connective tissue in organs, vascular and gastrointestinal adventitia, and is the only collagen in bone 136) What is phenylketonuria? - Correct answer elevated levels of urinary phenyl pyruvate and phenyl acetate, which occur when circulating phenylalanine levels, normally between 0.06 and 0.1 moll/L, rise above 1.2 moll/L 137) What is the most common cause of hyperphenylalaninemia? - Correct answer deficiency of the enzyme phenylalanine hydroxylase, which catalyzes the conversion of phenylalanine to tyrosine 138) What can result from untreated hyperphenylalaninemia? - Correct answer Post-natal growth restriction, moderate-to-severe intellectual disability, recurrent seizures, hypopigmentation, and eczematous skin rashes 139) What can happen if hyperphenylalaninemia treatment is stopped too early in childhood or adolescence? - Correct answer neurocognitive deficits and psychiatric problems that can develop, including deficits in executive functioning and anxiety, depression, and phobias. 140) How does Fragile X present? - Correct answer small joint hyper extensibility, mild hypotonic, and a family history of intellectual disability in maternally related males P a g e 12 | 12