NURS 6233 : Genetics for Healthcare Providers

Types of Genetic Disorders - Answer - Single Gene - Chromosomal - Mitochondrial - Multi-factorial Examples of Single Gene Disorders - Answer - Cystic Fibrosis - Sickle Cell Disease - Hemophilia Examples of Chromosomal Disorders - Answer Aneuploidy - Abnormal chromosome number (too many/few) - MOST common abnormality Down Syndrome - AKA Trisomy 21 - Extra copy of chromosome 21 (3 of them) Turner Syndrome Examples of Mitochondrial Disorders - Answer - Maternal ...

The central dogma of molecular biology - Answer transcription and translation How many genes in the human genome? - Answer ~25,000 genes How many hydrogen bonds between Adenine & Thymine? - Answer 2 How many hydrogen bonds between Cytosine & Guanine? - Answer 3 What is a promotor? - Answer nucleotide sequence that lies just upstream of a gene. RNA polymerase II binds to a promotor site on DNA to initiate transcription. Plays an important role in initiating gene express...

Alkaptonuria, symptoms - Answer Results in abnormal pigmentation and debilitating arthritis due to a loss-of-function mutation Alkaptonuria caused by - Answer homogentisic acid (HGA) which is an intermediate metabolite in phenylalanine and tyrosine metabolism is found in large quantities in urine which turns urine black in the presence of light Oxidation product of HGA is directly deposited in connective tissues Trisomy 13 (Patau Syndrome) mechanism - Answer An error in cell divis...

A nurse is constructing a pedigree of a patient and family to establish a patient's risk for possible genetic disorders. The nurse demonstrates understanding of this process by obtaining information going back at least how many generations? - Answer 3 The nurse is working with a 34-year-old client diagnosed with hypercholesterolemia. The client's father died from cardiovascular disease at age 50. When discussing the client's care with the genetic specialists, the nurse uses which ...

A father and mother are carriers of phenylketonuria (PKU). Their 2-year-old daughter has the condition. The couple tells the nurse that they are having a second baby. Because their daughter has PKU, they are certain that this baby will not be affected. Which response by the nurse is the most accurate? a."Good planning. You need to take advantage of the odds that are in your favor." b."I think you'd better first check with your physician." c."You are both carriers; therefore,...

A 35-year-old pregnant patient expresses concern to the nurse about the potential for cystic fibrosis in her children. What is the most appropriate nursing intervention? 1 Tell her that she needs to discuss the issue with a genetic counselor. 2 Inform her about the at-home genetic test kits available in the market. 3 Explain to her how to take the sample and mail it back to the laboratory. 4 Educate her on how to read and interpret the results of the genetic test. - Answer The nurse shoul...