NSG 510 Exam 5 Questions With Correct Answers.

NSG 510 Exam 5 Questions With Correct Answers. Explain the steps in mitosis - answer- replication - chromosomes line up on spindle - separation of replicated chromosomes - cell division - results in 2 diploid cells explain the steps in meiosis - answer- replication - pairing and crossing over of homologous chromosomes - paired chromosomes line up on spindle - first meiotic division - second meiotic division - results in 4 haploid cells chromosomal gene disorder: predict the probability of any offspring having or carrying the disorder - answeranyone else just over this semester single gene (Mendelian) autosomal dominant disorder: predict probability of any offspring having or carrying the disorder. - answer- one affected (Aa) and one normal (aa) parent: offspring have 50% chance of inheriting the dominant allele - two affected parents (Aa x Aa): offspring have 75% chance of inheriting dominant allele. single gene (Mendelian) autosomal recessive disorder: predict probability of any offspring having or carrying the disorder. - answer- Aa x aa: 50% carriers, 50% affected - Aa x Aa: 25% unaffected, 50% carriers, 25% affected sex linked disorder: predict probability of any offspring having or carrying the disorder. - answer- The affected father (xy) transmits the gene to all of his daughters and none of his sons. EXAM STUDY MATERIALS July 29, 2024 12:59 PM - A carrier mother (xx) has a 50% chance of producing an affected son and a 50% chance of producing a carrier daughter. state the outward phenotypic characteristics, developmental or metabolic/physiologic disorders associated with Trisomy 21 - answer- intellectual delay - narrow eyes - low ears - protruding tongue - congenital heart defects - intestinal stenosis - umbilical hernia - and more state the outward phenotypic characteristics, developmental or metabolic/physiologic disorders associated with Klinefelter syndrome - answer- Nondisjunction of X sex chromosome during meiosis resulting in XXY genotype (male). - low testosterone results in the following: - delayed puberty - decreased muscle mass - decreased facial hair - gynecomastia (man boobs) - small genitalia - low sperm count. state the outward phenotypic characteristics, developmental or metabolic/physiologic disorders associated with Familial hypercholesterolemia - answer- autosomal dominant disorder - Associated with defects in the genes that help remove LDL cholesterol from the blood (LDLR gene synthesizes low density lipoprotein receptors). Location chromosome 19. - increased risk of atherosclerotic cardiovascular disease. state the outward phenotypic characteristics, developmental or metabolic/physiologic disorders associated with Huntington disease - answer- autosomal dominant disorder - Associated with triplet repeats (CAG) on chromosome 4. CAG on chromosome 4 codes for the protein huntingtin which, when abnormal, causes degeneration of nerve cells. EXAM STUDY MATERIALS July 29, 2024 12:59 PM - Associated with early/mid-life mental deterioration - abnormal movements (Huntington's chorea) - early death. state the outward phenotypic characteristics, developmental or metabolic/physiologic disorders associated with Sickle cell disease - answer- autosomal recessive disorder - HBB (hemoglobin subunit B) gene on chromosome 11 codes for hemoglobin B. Mutations to HBB result in valine replacing glutamic acid. This results in the production of hemoglobin S which sickles in the presence of low oxygen. - Hemolysis - anemia - jaundice - Arterial vaso-occlusion conditions state the outward phenotypic characteristics, developmental or metabolic/physiologic disorders associated with Cystic fibrosis - answer- autosomal recessive disorder - Cystic fibrosis transmembrane conductance regulator (CFTR) gene is located on chromosome 7. Defects in this gene alter the movement of chloride across cells - also affects Na transport (high Na in sweat, dehydrated mucus in airway) - Buildup of thick, tenacious secretions in the airway to respiratory complications - thick secretions in the pancreatic duct and along the intestinal tract lead to endocrine, exocrine, and digestive disorders - diagnostic testing: Sweat test for high chloride state the outward phenotypic characteristics, developmental or metabolic/physiologic disorders associated with Hemophilia A - answer- sex lined x-chromosomal disorder - Mutation of the F8 gene on the X chromosome leads to impaired production of factor VIII. - Reduced factor VIII activity; - Hemarthrosis with joint pain and swelling; - Bleeding with minor or no trauma. contrast the frequency of polygenic and multifactorial disorders (high blood pressure, atherosclerosis, cancer, diabetes, cleft lip, and congenital heart disease) to chromosome and single gene disorders. - answer-