Genetic Disorders Caused by Chromosomal Abnormalities

<p>Angelman syndrome</p> Signup and view all the answers

<p>They are differentially expressed based on their parental origin</p> Signup and view all the answers

<p>15q11-13</p> Signup and view all the answers

<p>Parent-of-origin effect</p> Signup and view all the answers

<p>Angelman syndrome</p> Signup and view all the answers

<p>Detection of abnormal metabolite levels in metabolic disorders</p> Signup and view all the answers

<p>Fluorescence in situ hybridization (FISH)</p> Signup and view all the answers

<p>Detection of copy number changes and translocations in cancer cells</p> Signup and view all the answers

<p>Allele-specific PCR</p> Signup and view all the answers

<p>Detection of grossly evident structural changes in chromosomes</p> Signup and view all the answers

<p>Multiplex ligation-dependent probe amplification</p> Signup and view all the answers

<p>Detection of single base pair changes in individual genes</p> Signup and view all the answers

<p>Hemoglobin electrophoresis</p> Signup and view all the answers

<p>Detection of copy number changes in genetic disorders</p> Signup and view all the answers

<p>Next-generation sequencing</p> Signup and view all the answers

<p>Analysis of a specific gene mutation known to be associated with a rare genetic disorder in a child</p> Signup and view all the answers

<p>A patient presenting with a specific type of cancer</p> Signup and view all the answers

<p>Cytogenetic analysis of chromosomes</p> Signup and view all the answers

<p>Phenylketonuria is caused by a mutation in a single gene.</p> Signup and view all the answers

<p>Cystic fibrosis</p> Signup and view all the answers

<p>A single nucleotide substitution</p> Signup and view all the answers

<p>Cystic fibrosis</p> Signup and view all the answers

<p>Carrier screening</p> Signup and view all the answers

<p>Obesity</p> Signup and view all the answers

<p>Fluorescence in situ hybridization (FISH)</p> Signup and view all the answers

<p>Intellectual disability</p> Signup and view all the answers

<p>Small hands and feet</p> Signup and view all the answers

<p>Chromosomal rearrangement</p> Signup and view all the answers

<p>Hypermuscular build</p> Signup and view all the answers

<p>To hybridize with complementary sequences</p> Signup and view all the answers

<p>Prader-Willi syndrome</p> Signup and view all the answers

<p>Chronic endothelial injury</p> Signup and view all the answers

<p>Increased risk of atherosclerosis</p> Signup and view all the answers

<p>Elevated LDL levels</p> Signup and view all the answers

<p>Chronic inflammation</p> Signup and view all the answers

<p>Hypertension</p> Signup and view all the answers

<p>It contributes to a higher risk of atherosclerosis.</p> Signup and view all the answers

<p>Formation of atheromas</p> Signup and view all the answers

<p>Increased risk of thrombus formation</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>True</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>False</p> Signup and view all the answers

<p>Maternally imprinted genes are silenced in the maternal allele and expressed in the paternal allele, playing a crucial role in the development of offspring.</p> Signup and view all the answers

<p>Array CGH offers higher resolution and does not require cell culture, making it easier to interpret and providing more detailed information on chromosomal abnormalities.</p> Signup and view all the answers

<p>Imprinted genes regulate gene expression in a parent-of-origin-specific manner, influencing the development of offspring.</p> Signup and view all the answers

<p>Paternal imprinting involves transcriptional silencing of the maternal allele, whereas maternal imprinting involves transcriptional silencing of the paternal allele.</p> Signup and view all the answers

<p>Array CGH offers higher resolution, is easier to interpret, and can detect larger chromosomal changes, whereas Sanger sequencing is more suitable for detecting point mutations.</p> Signup and view all the answers

<p>Genomic imprinting dysregulation can lead to various human diseases, such as Prader-Willi and Angelman syndromes, by disrupting normal gene expression.</p> Signup and view all the answers

<p>Understanding genomic imprinting mechanisms is crucial for comprehending normal development and understanding the origins of certain human diseases.</p> Signup and view all the answers

<p>Array CGH offers higher resolution and can detect smaller chromosomal changes, allowing for more accurate detection of chromosomal abnormalities.</p> Signup and view all the answers

<p>Genetic analysis is commonly performed using karyotyping.</p> Signup and view all the answers

<p>Next-generation sequencing is often used for diagnosing congenital anomalies.</p> Signup and view all the answers

<p>Biochemical assays are used to identify enzyme deficiencies.</p> Signup and view all the answers

<p>Identifying serum phenylalanine levels helps in diagnosing phenylketonuria and monitoring dietary compliance.</p> Signup and view all the answers

<p>Chronic inflammation can lead to the formation of atherosclerosis.</p> Signup and view all the answers

<p>Karyotyping is the most appropriate genetic test for determining fetal sex in such scenarios.</p> Signup and view all the answers

<p>Genomic imprinting is an epigenetic process where the expression of a gene is determined by its parental origin. This means that the maternal and paternal alleles of a gene may be differentially expressed, leading to different phenotypic outcomes depending on whether the gene was inherited from the mother or father. For example, a deletion in the paternal chromosome 15 can result in Prader-Willi syndrome, while a deletion in the maternal chromosome 15 leads to Angelman syndrome, illustrating the distinct phenotypic consequences due to parental origin.</p> Signup and view all the answers

<p>It aids in diagnosing conditions like phenylketonuria and cystic fibrosis.</p> Signup and view all the answers

<p>Imprinting refers to the differential expression of genes based on their parental origin. In Prader-Willi and Angelman Syndromes, specific genes on chromosome 15 are imprinted, meaning they are only expressed from one parent. Disturbances in this imprinting process, such as deletions or mutations, can lead to the absence of the active copy of the gene, resulting in the respective syndromes. For example, a deletion in the paternal copy of chromosome 15 leads to Prader-Willi syndrome, while a deletion in the maternal copy results in Angelman syndrome.</p> Signup and view all the answers

<p>FISH identifies subtle structural changes at the chromosomal level.</p> Signup and view all the answers

<p>Karyotyping is a technique used to visualize and identify chromosomal abnormalities, such as deletions, insertions, translocations, and aneuploidy. It is primarily used to detect large-scale structural changes in chromosomes. In contrast, array-based CGH is used to detect subtle or submicroscopic changes in DNA copy number, such as small deletions, duplications, or imbalances, which are often missed by traditional karyotyping. CGH is more sensitive for detecting these smaller structural variations, offering a more detailed view of the genome.</p> Signup and view all the answers

<p>Traditional karyotype analysis, while valuable, can only detect large chromosomal abnormalities visible under a microscope. It often misses subtle changes like small deletions, insertions, or duplications. Newer techniques like array-based genomic hybridization offer a higher resolution, allowing for the detection of these smaller variations that were previously undetectable by karyotyping. This increased sensitivity provides a more comprehensive view of the genome and leads to more accurate diagnoses of genetic conditions.</p> Signup and view all the answers

<p>It detects specific mutations such as those causing sickle cell disease.</p> Signup and view all the answers

<p>Fluorescence probes are DNA sequences labeled with fluorescent dyes that are used to identify specific DNA sequences or chromosomal regions in genetic testing. They bind to complementary DNA sequences, allowing for the visualization and analysis of specific regions of the genome. For example, in fluorescence in situ hybridization (FISH), probes are used to detect the presence or absence of specific genes or chromosomal regions, providing information about deletions, duplications, or translocations. The fluorescent signal indicates the location and quantity of the targeted DNA sequence, revealing genetic alterations.</p> Signup and view all the answers

<p>Biochemical assays are crucial for identifying genetic disorders associated with enzyme deficiencies, such as phenylketonuria. These assays measure the levels of specific metabolites or enzymes in the body, revealing deviations from normal values indicative of a genetic defect. In phenylketonuria, the lack of phenylalanine hydroxylase enzyme leads to an accumulation of phenylalanine in the blood, detectable through biochemical analysis. Biochemical assays provide valuable information complementary to other genetic testing methods like karyotyping or DNA sequencing, which focus on identifying chromosomal abnormalities or specific gene mutations.</p> Signup and view all the answers

<p>Next-generation sequencing (NGS) is a powerful and versatile technology that enables the simultaneous sequencing of millions of DNA fragments, providing comprehensive and detailed information about the entire genome. This allows for the identification of a wide range of genetic variations, including single nucleotide polymorphisms (SNPs), small insertions and deletions (INDELS), and copy number variations (CNVs), which may not be detectable by traditional methods. NGS offers higher throughput, greater sensitivity, and lower cost compared to conventional sequencing methods, making it a valuable tool for identifying genetic disorders and understanding the complexities of human genetic variation.</p> Signup and view all the answers

<p>It can detect copy number changes and translocations.</p> Signup and view all the answers

<p>Enzyme deficiencies can be identified through biochemical assays, which measure the activity levels of specific enzymes in blood or other biological samples. These assays can detect reduced or absent enzyme activity, indicating a deficiency. For example, phenylketonuria (PKU) is a genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase. By measuring phenylalanine levels in the blood, a biochemical assay can diagnose PKU, allowing for early intervention and treatment to prevent the development of severe complications associated with the disorder.</p> Signup and view all the answers

<p>Next-generation sequencing (NGS) revolutionized genetic diagnostics by enabling the simultaneous analysis of millions of DNA sequences, providing a comprehensive view of the genome. This high-throughput approach surpasses traditional Sanger sequencing, which can only analyze a single DNA fragment at a time. NGS is used in various clinical settings, such as identifying mutations in cancer genes, diagnosing rare genetic disorders, and determining the genetic basis of complex diseases. Its ability to analyze large datasets expedites diagnostic processes, offering personalized treatment strategies based on an individual's unique genetic profile.</p> Signup and view all the answers

<p>Karyotyping reveals the presence of trisomy 21.</p> Signup and view all the answers

<p>Genetic testing, while offering invaluable information, raises significant ethical considerations. Individuals undergoing testing might face emotional distress or discrimination based on their genetic results. Society needs to address concerns about genetic privacy, potential misuse of information, and the impact of genetic testing on reproductive choices. Informed consent is paramount, ensuring individuals understand the risks, benefits, and implications of testing before proceeding. Genetic counseling plays a crucial role in providing support and guidance, helping individuals interpret their results and make informed decisions about their health and family planning.</p> Signup and view all the answers

<p>Genomic imprinting adds another layer of complexity to the diagnosis and understanding of genetic disorders. It highlights that not all genes are expressed equally from both parental chromosomes. This implies that the phenotypic consequences of genetic alterations may vary depending on the parental origin of the affected gene. For instance, Prader-Willi and Angelman syndromes, both caused by deletions in chromosome 15, demonstrate distinct phenotypic outcomes due to the parental origin of the deletion. Prader-Willi syndrome results from a paternal deletion, while Angelman syndrome is caused by a maternal deletion. This emphasizes the importance of considering genomic imprinting when interpreting genetic test results and understanding the underlying mechanisms of genetic disorders.</p> Signup and view all the answers

<p>It detects abnormal types of hemoglobin, such as those seen in sickle cell anemia.</p> Signup and view all the answers

<p>Sickle cell disease is a genetic disorder caused by a point mutation in the beta-globin gene, resulting in the production of abnormal hemoglobin, which leads to red blood cell distortion and dysfunction. Genetic testing for sickle cell disease is crucial for early diagnosis and management. By identifying individuals carrying the sickle cell trait or those with the disease, early interventions can be implemented. This includes genetic counseling, prenatal diagnosis, and strategies for managing complications, such as pain episodes, infections, and organ damage. Early diagnosis and management can significantly improve the quality of life for individuals with sickle cell disease.</p> Signup and view all the answers

<p>Prenatal genetic testing offers valuable information about the health of a fetus, allowing for early detection of genetic abnormalities and potential complications. This knowledge empowers expectant parents to make informed reproductive decisions, including whether to continue the pregnancy, prepare for potential challenges, or seek specialized care. However, prenatal genetic testing also presents ethical considerations, such as the potential for false positives or the emotional burden of receiving unfavorable results. It is crucial to provide accurate information and counseling to ensure informed decision-making.</p> Signup and view all the answers

<p>It can detect copy number changes like trisomy 21.</p> Signup and view all the answers

<p>It identifies specific mutations in individual genes.</p> Signup and view all the answers

<p>Karyotyping, while valuable for identifying large-scale chromosomal abnormalities, has limitations in detecting subtle or submicroscopic variations in DNA copy number. It may miss small deletions, duplications, or imbalances, which can have significant clinical consequences. Array-based CGH, with its higher resolution and sensitivity, is often preferred for identifying these smaller genetic variations. By comparing the DNA copy number between a patient's sample and a reference genome, CGH can detect subtle changes that may go unnoticed by traditional karyotyping, providing a more comprehensive and accurate assessment of genetic abnormalities.</p> Signup and view all the answers

<p>Genetic testing plays a pivotal role in personalized medicine, enabling the tailoring of treatment strategies to an individual's unique genetic makeup. By identifying genetic variations associated with drug response or disease susceptibility, doctors can optimize treatment plans, predict potential side effects, and select the most effective therapies. For example, in breast cancer, genetic testing can identify BRCA1 and BRCA2 mutations, guiding personalized treatment decisions based on the specific genetic profile. This precision medicine approach enhances treatment efficacy and minimizes side effects, improving patient outcomes.</p> Signup and view all the answers

<p>It detects small deletions and insertions in genes.</p> Signup and view all the answers

<p>Genetic testing can be used to identify individuals at risk for developing certain diseases based on their genetic predisposition. This predictive testing provides valuable information for early intervention and lifestyle modifications, potentially mitigating the severity or onset of the disease. However, it also raises ethical concerns, including the potential for discrimination, anxiety, and the psychological impact of knowing one's risk. Individuals must be fully informed about the limitations of predictive testing, the potential uncertainties, and the availability of resources and support systems.</p> Signup and view all the answers

<p>They help ascertain the presence or absence of specific enzyme deficiencies.</p> Signup and view all the answers

<p>sex</p> Signup and view all the answers

<p>autosomes</p> Signup and view all the answers

<p>polymerase</p> Signup and view all the answers

<p>chain</p> Signup and view all the answers

<p>gene</p> Signup and view all the answers

<p>chromosome</p> Signup and view all the answers

<p>genomic</p> Signup and view all the answers

<p>understood</p> Signup and view all the answers

<p>hypertension</p> Signup and view all the answers

<p>hypertension</p> Signup and view all the answers

<p>end-organ</p> Signup and view all the answers

<p>hormone-secreting adrena</p> Signup and view all the answers

<p>Nitric</p> Signup and view all the answers

<p>atherosclerosis</p> Signup and view all the answers

<p>end-organ</p> Signup and view all the answers

<p>vessel</p> Signup and view all the answers

<p>created</p> Signup and view all the answers

<p>severe</p> Signup and view all the answers

<p>vascular</p> Signup and view all the answers

<p>unnoticed</p> Signup and view all the answers

<p>blood</p> Signup and view all the answers

<p>increases</p> Signup and view all the answers

<p>prevented</p> Signup and view all the answers

<p>morbidity</p> Signup and view all the answers

<p>blood</p> Signup and view all the answers

<p>nervous system</p> Signup and view all the answers

<p>risk</p> Signup and view all the answers

<p>narrowing</p> Signup and view all the answers

<p>blood</p> Signup and view all the answers

<p>dramatic</p> Signup and view all the answers

<p>thin-walled</p> Signup and view all the answers

<p>principal</p> Signup and view all the answers

<p>spontaneously</p> Signup and view all the answers

<p>obstruction</p> Signup and view all the answers

<p>discussed</p> Signup and view all the answers

<p>disease</p> Signup and view all the answers

<p>vascular</p> Signup and view all the answers

<p>challenges</p> Signup and view all the answers

<p>Maternal imprinting = Transcriptional silencing of the maternal allele in the ovum. Paternal imprinting = Transcriptional silencing of the paternal allele in the sperm. Imprinting = The process by which genes are differentially expressed based on their parental origin. Genomic region = A specific DNA sequence that is subject to imprinting.</p> Signup and view all the answers

<p>Karyotyping = Detection of large-scale chromosomal abnormalities, such as translocations and deletions. Array CGH = Detection of subtle chromosomal changes, including copy number variations and microdeletions. Biochemical assays = Detection of enzyme deficiencies and metabolic abnormalities. Next-generation sequencing = Detection of single-base pair changes (mutations) in individual genes.</p> Signup and view all the answers

<p>Prader-Willi syndrome = Caused by a deletion in the paternal chromosome 15, characterized by hypotonia, obesity, and intellectual disability. Angelman syndrome = Caused by a deletion in the maternal chromosome 15, characterized by developmental delays, seizures, and a happy demeanor. Phenylketonuria = Caused by a deficiency in the enzyme phenylalanine hydroxylase, leading to the accumulation of phenylalanine in the blood. Sickle cell anemia = Caused by a mutation in the beta-globin gene, leading to the production of abnormal hemoglobin.</p> Signup and view all the answers

<p>Atherosclerosis = A chronic inflammatory disease characterized by the buildup of plaque in the arteries. Aneurysm = A localized, balloon-like bulge in the wall of a blood vessel. Hypercholesterolemia = Elevated levels of cholesterol in the blood. Hyperlipidemia = Elevated levels of lipids, including cholesterol and triglycerides, in the blood.</p> Signup and view all the answers

<p>Genomic imprinting = Differential expression of genes based on parental origin Paternal chromosome = Carries genes that are not imprinted Maternal allele = Required for normal gene function Deletion = A type of chromosomal mutation</p> Signup and view all the answers

<p>15q12 deletion = A chromosomal abnormality resulting in complex results Imprinted gene = Gene expression depends on parental origin Chromosomal abnormality = Can be detected using biochemical assays Genotype = Depends on both paternal and maternal alleles</p> Signup and view all the answers

<p>Biochemical assays = Detects enzyme deficiencies in genetic disorders Next-generation sequencing = Detects subtle/submicroscopic structural changes in chromosomes Karyotyping = Detects small deletions and insertions in genetic disorders Array-based genomic hybridization = Detects specific base pair changes in individual genes</p> Signup and view all the answers

<p>Prader-Willi syndrome = Caused by a deletion in the paternal chromosome Angelman syndrome = Caused by a deletion in the maternal chromosome Phenylketonuria = Caused by a specific base pair change in an individual gene Sickle cell anemia = Caused by a chromosomal abnormality</p> Signup and view all the answers

<p>Imprinted genes = Differentially expressed based on parental origin Chromosomal abnormalities = Can be detected using karyotyping Genetic testing = Used to identify potential genetic disorders in offspring Genomic hybridization = Detects specific base pair changes in individual genes</p> Signup and view all the answers

<p>Sanger DNA sequencing = Detects small deletions and insertions in genetic disorders Array-based genomic hybridization = Detects subtle/submicroscopic structural changes in chromosomes Next-generation sequencing = Detects specific base pair changes in individual genes Biochemical assays = Detects enzyme deficiencies in genetic disorders</p> Signup and view all the answers

<p>Prader-Willi syndrome = Caused by a deletion in the maternal chromosome Angelman syndrome = Caused by a deletion in the paternal chromosome Phenylketonuria = Caused by a specific base pair change in an individual gene Sickle cell anemia = Caused by a chromosomal abnormality</p> Signup and view all the answers

<p>Genomic imprinting = Differential expression of genes based on parental origin Chromosomal abnormalities = Can be detected using karyotyping Genetic testing = Used to identify potential genetic disorders in offspring Genotype = Depends on both paternal and maternal alleles</p> Signup and view all the answers

<p>Atheroma = A buildup of plaque within the walls of arteries Hypercholesterolemia = Elevated levels of cholesterol in the blood Aneurysm = A localized, abnormal bulge in a blood vessel wall Endothelial injury = Damage to the inner lining of blood vessels, often caused by inflammation or high blood pressure</p> Signup and view all the answers

<p>Hypercholesterolemia = Increased risk of developing atherosclerosis Turbulent blood flow = Increased risk of aneurysm formation and blood clot formation Endothelial injury = Increased risk of inflammation and plaque buildup in arteries Weakened vessel walls = Increased risk of aneurysm formation and rupture</p> Signup and view all the answers

<p>Atherosclerosis = Chronic inflammation and plaque buildup in arteries Aneurysm = Weakened vessel walls due to factors like hypertension or infection Hypertension = Increased pressure on blood vessel walls, leading to damage Endothelial dysfunction = Damage to the inner lining of blood vessels, contributing to inflammation and plaque formation</p> Signup and view all the answers

<p>Aneurysm rupture = Internal bleeding, stroke, or death Atherosclerosis = Restricted blood flow, increased risk of heart attack or stroke Endothelial injury = Increased risk of inflammation, plaque buildup, and atherosclerosis Turbulent blood flow = Increased risk of blood clots, aneurysm formation, and damage to vessel walls</p> Signup and view all the answers

<p>Hyperlipidemia = High levels of fats (lipids) in the blood Dyslipidemia = Abnormal levels of lipids in the blood Atherosclerosis = Hardening and narrowing of arteries due to plaque buildup Inflammation = A complex biological response to injury or infection, often contributing to atherosclerosis</p> Signup and view all the answers

<p>Endothelial injury = Triggers inflammation and plaque buildup Hypercholesterolemia = Contributes to plaque formation and narrowing of arteries Inflammation = Promotes cell adhesion and plaque formation Turbulent blood flow = Can damage blood vessel walls and promote plaque buildup</p> Signup and view all the answers

<p>Atheroma = A plaque buildup within the walls of arteries Aneurysm = A localized, abnormal bulge in a blood vessel wall Hypertension = Elevated blood pressure Endothelial dysfunction = Impaired function of the inner lining of blood vessels</p> Signup and view all the answers

<p>Atherosclerosis = Heart attack, stroke, and peripheral artery disease Aneurysm = Rupture, leading to internal bleeding and death Hypertension = Damage to blood vessels, heart failure, and stroke Endothelial dysfunction = Increased risk of atherosclerosis, blood clots, and heart attack</p> Signup and view all the answers

<p>Prader-Willi syndrome = Deletion in the paternal chromosome 15q12 Angelman syndrome = Deletion in the maternal chromosome 15q12 Phenylketonuria = Mutation in the PAH gene on chromosome 12 Sickle cell anemia = Mutation in the HBB gene on chromosome 11</p> Signup and view all the answers

<p>Karyotyping = Detecting chromosomal abnormalities Biochemical assays = Identifying enzyme deficiencies Array-based genomic hybridization = Detecting small deletions and insertions Next-generation sequencing = Sequencing the entire genome or exome</p> Signup and view all the answers

<p>Prader-Willi syndrome = Hypotonicity Angelman syndrome = Happy puppet syndrome Phenylketonuria = Elevated phenylalanine levels Sickle cell anemia = Sickle-shaped red blood cells</p> Signup and view all the answers

<p>Sanger sequencing = Identifying specific base pair changes in individual genes Fluorescence in situ hybridization (FISH) = Detecting specific DNA sequences in chromosomes Microarray analysis = Detecting copy number variations and single nucleotide polymorphisms Next-generation sequencing (NGS) = Sequencing a large number of genes or the entire genome</p> Signup and view all the answers

<p>Imprinting = Differential expression of genes based on parental origin Allele = Alternative forms of a gene Genotype = Genetic makeup of an individual Phenotype = Observable characteristics of an individual</p> Signup and view all the answers

<p>Prader-Willi syndrome = Autosomal dominant Angelman syndrome = Autosomal dominant Phenylketonuria = Autosomal recessive Sickle cell anemia = Autosomal recessive</p> Signup and view all the answers

<p>Exome = The protein-coding portion of the genome Genome = The complete set of genetic material in an organism Gene = A unit of heredity Chromosome = A thread-like structure of DNA and protein that carries genetic information</p> Signup and view all the answers

<p>Mutation = A permanent change in the DNA sequence Polymorphism = A variation in the DNA sequence that is common in the population Haplotype = A group of alleles that are inherited together Linkage disequilibrium = Non-random association of alleles at different loci</p> Signup and view all the answers

<p>Sodium = Blood Volume Mineralocorticoids = Constrictors Atrial natriuretic peptide = Dilators Angiotensin II = Constrictors</p> Signup and view all the answers

<p>Heart rate = Cardiac Output Contractility = Peripheral Resistance α-adrenergic = Constrictors β-adrenergic = Dilators</p> Signup and view all the answers

<p>pH = Dilators Hypoxia = Constrictors Autoregulation = Peripheral Resistance NO (Nitric Oxide) = Dilators</p> Signup and view all the answers

<p>Prostaglandins = Dilators Kinins = Dilators NO (Nitric Oxide) = Dilators Thromboxane = Constrictors</p> Signup and view all the answers

<p>Catecholamines = Constrictors Endothelin = Constrictors Angiotensin II = Constrictors Leukotrienes = Constrictors</p> Signup and view all the answers

<p>Autoregulation = Blood Pressure Heart Rate = Cardiac Function Contractility = Cardiac Output Peripheral Resistance = Blood Volume</p> Signup and view all the answers

<p>Sodium = Electrolyte Factor Mineralocorticoids = Hormonal Factor Atrial natriuretic peptide = Hormonal Factor Prostaglandins = Eicosanoid Factor</p> Signup and view all the answers

<p>Norepinephrine (NE) = Constrictor Epinephrine = Dilator Dopamine = Dilator Serotonin = Constrictor</p> Signup and view all the answers

<p>Angiotensin II = Vasoconstriction Prostaglandins = Vasodilation Natriuretic peptides = Vasodilation Endothelin = Vasoconstriction</p> Signup and view all the answers