Pathophysiology Chapter 4: Study Questions

Individual differences in appearance, behavior, and disease susceptibility are a result of which of these?

A haplotype

A health care researcher has identified the gene of interest in a particular genetic disorder as well as the gene's location, Xq97. Where would one find a gene named Xq97?

Band 9, region 7 of the long arm of the X chromosome

A physician is working with a family whose daughter has been recently diagnosed with the chromosomal disorder Turner syndrome. Which statement about the characteristics of human chromosomes is accurate?

Each of the 22 pairs of autosomes has a homologue.

A researcher is involved in the investigation of an individual's genetic abnormality. Which situation could the researcher most likely rule out as the genetic cause of a mutation?

Formation of an adenine-uracil base pair

A nurse conducting a staff development class on chromosomes knows they understand the material when the staff correctly states that normal women have 50% of their X chromosomes from their mothers and 50% from their fathers using which terminology?

Lyon principle

A nurse understands that the cell cycle of duplicating somatic cells is called:

Mitosis

Multifactorial inheritance is similar to polygenic inheritance because both involve which of these?

Multiple alleles at different loci

A nurse sees that a client's disorder has a polygenic inheritance pattern. The nurse understands this involves which physiologic concept?

Multiple genes at different loci

Which conceptual model would be most helpful for a nurse to develop to show a client's family history of an inherited trait?

Pedigree

While lecturing on inheritance patterns, a student asks, "My mother has blue eyes and my father has brown eyes. All my siblings have brown eyes except me. How can this happen?" Which explanation is the most accurate response?

Phenotypically, the brown-eyed persons are the same, but genotypically they are different.

A nurse planning a community education class on genetics includes which term as the complete set of proteins encoded by a genome?

Proteome

A nurse working in a genetic clinic understands that the process of transcription is initiated by which of the following?

RNA polymerase

A 5-year-old child has just been diagnosed with Prader-Willi syndrome. What information about how this condition is inherited should the nurse provide to the parents?

The child inherited chromosome 15, which was missing a portion of genes from the father.

A client's history and physical indicate that the client is a carrier of sickle cell anemia. The nurse anticipates which of the following?

The client can transmit the disorder but does not exhibit symptoms.

A client has a disorder that is known to affect the structure and function of the transcription factors. What is the most likely implication of this client's health status?

There will be abnormalities in the regulation of the client's genetic activity.

A nurse sees that a client's X chromosome is metacentric. What does the nurse interpret this to mean?

This a normal occurrence.

A nurse conducting a genetics class says that one type of RNA delivers the appropriate amino acids to the ribosome. Which type of RNA is the nurse referring to?

Transfer

When an infant is born with gene mutations in his/her cells, the errors may be a result of all of the following except _____________ of base pairs.

differentiation

Which enzymes assist in repairing deoxyribonucleic acid (DNA) defects by recognizing a defect, cleaving the abnormal chain, and removing the distorted regions?

endonucleases

An instructor is teaching students about recombinant DNA technology and the impact of its results on pharmacology. Select the response that best identifies a result of the technology.

human insulin

A client with a diagnosis of chronic renal failure receives regular injections of erythropoietin to stimulate red blood cell synthesis. This treatment:

is a direct application of recombinant DNA technology.

When comparing and contrasting the various forms of RNA, the pathophysiology instructor identifies that ribosomal RNA (rRNA) is unique in that it:

is produced in the nucleous

When discussing upcoming chromosome studies, a client asks, "What kind of sample are they going to take to do these tests?" The nurse replies, "The most common cells used for this purpose are:

lymphocytes from a venous blood specimen.

Crossing-over of chromatid segments during meiosis division 1 results in:

new gene combinations

Most human traits are determined by multiple pairs of genes, many with alternate codes, accounting for some dissimilar forms that occur with certain genetic disorders. What type of inheritance involves multiple genes at different loci, with each gene exerting a small additive effect in determining a trait?

polygenic inheritance

Homozygotes are what people are called in whom the two alleles of a given pair are the same (AA or aa). Heterozygotes are what people are called who have different alleles (Aa) at a gene locus. What kind of trait is expressed only in homozygous pairing?

recessive trait

A nurse seeing that a disorder has a Mendelian inheritance pattern interprets this to mean that the disorder is:

single gene disorder

Gene therapy (insertion of genes into the genome of multicellular organisms) is accomplished by:

transferring genes