NU 318 - EXAM #2 QUESTIONS AND ANSWERS

NU 318 - EXAM #2 QUESTIONS AND ANSWERS Why is Family History Important? - Ans:--helps to determine if an individual has an increased risk for genetic disorder -assists with questions related to reproduction -assists with prevention or life modification is needed What is an Enzyme? - Ans:-biological catalyst that causes a biochemical reaction to occur or increases the rate of a specific biochemical reaction within a cell, body tissue, or organ What do known mutations in common enzymes result in? - Ans:--Accumulation of excess amounts of a specific amino acid (Hyper aminoacidemia) -Buildup of a precursor product with lysosomes (Lysosomal storage Disease) ©GRACEAMELIA 2024/2025 ACADEMIC YEAR. ALL RIGHTS RESERVED FIRST PUBLISH OCTOBER 2024 Page 2/27 Example of Hyper aminoacidemia Disease - Ans:-Phenylketonuria (PKU) Example of Lysosomal Storage Disorders - Ans:--Fabry Disease -Tay-Sachs -Gaucher's Phenylketonuria (PKU) affected gene? - Ans:--PAH gene mutation -excessive buildup of phenylalanine -deficiency of tyrosine -Autosomal Recessive -Severe cognitive impairment -small stature -small head size Fabry Disease - Ans:--Mutated alpha-galactosidase A gene ©GRACEAMELIA 2024/2025 ACADEMIC YEAR. ALL RIGHTS RESERVED FIRST PUBLISH OCTOBER 2024 Page 3/27 -Excess build up of GL-3 in the lysosomes of many tissues -GL-3 part of recycling of old red blood cells and other cells -Damages blood vessels and reduces perfusion -Chronic inflammation, leading to ischemia and tissue/organ failure -X Linked Recessive -Usually begins late childhood -Cold/Heat intolerance -Eye impairment -Numbness in fingers and toes -Reduced organ function -Premature death (20 to 40) ©GRACEAMELIA 2024/2025 ACADEMIC YEAR. ALL RIGHTS RESERVED FIRST PUBLISH OCTOBER 2024 Page 4/27 What is Marfan Syndrome? - Ans:-Connective tissue disorder in which the gene for fibrillin is mutated, preventing fibrillin form interacting with collagen and elastic to provide recoil strength to tissues during and after stretching -Autosomal Dominant (HIGH spontaneous mutation rate) -TOO little Fibrillin -connective tissue is weak -Cardiovascular problems are the most common of premature death -Tall -loose joints -spinal curvatures -small iris -widens aorta