Module 1: Genes and Genetic Diseases

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A primary function of the cell nucleus is:

A) production of ATP.
B) production of enzymes for cellular processes.
C) regulation of cell division.
D) control of cell-to-cell recognition.

C) regulation of cell division.

The nuclear structure that contains most of the cellular DNA is called the:

A) cytoplasm.
B) nucleolus.
C) matrix.
D) histone.

B) nucleolus.

RNA is used to direct:

A) protein synthesis.
B) cell division.
C) energy production.
D) DNA repair.

A) protein synthesis.

The chief function of ribosomes is to provide sites for:

A) cell division.
B) protein synthesis.
C) lipid synthesis.
D) glucose breakdown.

B) protein synthesis.

The process of nuclear division in cell reproduction is known as:

A) mitosis.
B) cytokinesis.
C) G phase.
D) interphase.

A) mitosis.

Reproduction of the sperm and egg cells occurs through the process of:

A) mitosis.
B) cytokinesis.
C) angiogenesis.
D) meiosis.

D) meiosis.

The phase during the cell cycle in which RNA and protein synthesis occurs is called:

A) G0.
B) S.
C) M.
D) G2.

D) G2.

The phase during the cell cycle in which mitosis occurs is called:

A) G0.
B) S.
C) M.
D) G1.

C) M.

The phase during the cell cycle in which DNA synthesis occurs is called:

A) G1.
B) S.
C) interphase.
D) prophase.

B) S.

At the end of telophase, which of the following events has occurred?

A) Cell growth has been completed.
B) DNA strands have been separated.
C) Centromeres have split and chromatids have been pulled apart.
D) Two daughter cells have been formed.

D) Two daughter cells have been formed.

Cytokines are chemicals transmitted within and between cells to control and regulate cell:

A) growth.
B) metabolism.
C) enzyme function.
D) secretion.

A) growth.

DNA contains:

A) the enzymes necessary for cell division.
B) the genetic code for all parts of the body.
C) a genetic blueprint for making proteins only.
D) proteins for structural elements in the cell.

B) the genetic code for all parts of the body.

Adenine, cytosine, guanine, and thymine are:

A) phosphate groups.
B) amino acids.
C) the four helical strands of DNA.
D) nitrogenous bases.

D) nitrogenous bases.

The triplet of base pairs necessary to code for a specific amino acid is called a:

A) protein.
B) nucleotide.
C) codon.
D) chromosome.

C) codon.

The base components of RNA are:

A) A, G, C, and U.
B) U, G, C, and T.
C) A, G, C, and T.
D) X and Y.

A) A, G, C, and U.

In the DNA helix, guanine pairs with:

A) cytosine.
B) thymine.
C) uracil.
D) adenine.

A) cytosine.

The process by which RNA is formed from DNA for protein synthesis is called:

A) translation.
B) transcription.
C) mitosis.
D) meiosis.

B) transcription.

Prior to translation, which of the following steps must occur?

A) Anticodon on tRNA matching its codon on mRNA
B) Peptide binding of amino acid sequences
C) DNA unzipping and complimentary base pairing
D) Ribosome reading the termination sequence on mRNA

C) DNA unzipping and complimentary base pairing

Mutations can result in abnormal:

A) DNA.
B) RNA.
C) proteins.
D) DNA, RNA, and proteins.

D) DNA, RNA, and proteins.

Which of the following statements about mutations is correct?

A) Mutations always lead to genetic disease.
B) Spontaneous mutations occur as a result of exposure to a mutagen.
C) Mutations are alterations in normal DNA sequence.
D) Mutations are always inherited.

C) Mutations are alterations in normal DNA sequence.

Clastogens are agents that cause:

A) chromosomal duplications.
B) single gene mutations.
C) chromosomal breakage.
D) sex chromosome aneuploidies.

C) chromosomal breakage.

Silent substitutions usually cause:

A) cell death.
B) cell dysfunction.
C) cancer.
D) no problems.

D) no problems.

The outward manifestation of a disease, often influenced by both genes and the environment, is called the disease:

A) genotype.
B) allele.
C) phenotype.
D) dominance.

C) phenotype.

A karyotype is:

A) a method for identifying single gene disorders.
B) the sequence of DNA in a gene.
C) an ordered photographic display of a set of chromosomes from a single cell.
D) a sequence of RNA that codes for a particular protein.

C) an ordered photographic display of a set of chromosomes from a single cell.

Which of the following types of genetic disorders is the most common cause of miscarriage?

A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Chromosomal

D) Chromosomal

A somatic cell that contains a multiple of 23 chromosomes is called:

A) an aneuploid cell.
B) an euploid cell.
C) a trisomic cell.
D) a mosaic cell.

B) an euploid cell.

The condition in which a single chromosome is missing in each cell is called:

A) a haploid condition.
B) an autosomy.
C) a monosomy.
D) Down syndrome.

C) a monosomy.

Which of the following genetic disorders results in severe mental retardation caused by a deletion of part of a chromosome?

A) Huntington disease
B) Cri du chat syndrome
C) Prader-Willi syndrome
D) Cystic fibrosis

B) Cri du chat syndrome

Trisomy is a form of:

A) polyploidy.
B) aneuploidy.
C) monosomy.
D) autosomal dominant inheritance.

B) aneuploidy.

Chromosomal nondisjunction results in:

A) monosomies and trisomies.
B) chromosomal translocation.
C) broken chromosomes.
D) normal cell division

A) monosomies and trisomies.

Down syndrome, Turner syndrome, and Klinefelter syndrome all manifest with which of the following problems?

A) Severe mental retardation
B) Congenital heart defects
C) Sterility
D) None of the above

D) None of the above

Down syndrome occurs with a trisomy of which chromosome?

A) 6
B) 8
C) 14
D) 21

D) 21

The most important risk factor for Down syndrome is:

A) increased maternal age.
B) a family history of Down syndrome.
C) fetal exposure to teratogens during pregnancy.
D) previous multiple pregnancies.

A) increased maternal age.

A person with Klinefelter syndrome has which of the following genetic abnormalities?

A) Trisomy 13
B) Trisomy 21
C) X
D) XXY

D) XXY

Which of the following aneuploidy disorders is found only in females?

A) Turner syndrome
B) Down syndrome
C) Klinefelter syndrome
D) None of the above

A) Turner syndrome

The most common genotype for Turner syndrome is:

A) X.
B) XX.
C) XXX.
D) XXXX.

A) X.

Which of the following is not a term used to describe a process that results in abnormal chromosomal structure?

A) Duplication
B) Freezing
C) Translocation
D) Deletion

B) Freezing

The most serious problem associated with the inversion of genetic material is:

A) severe mental retardation in the affected individual.
B) physical disabilities.
C) chromosomal defects in offspring.
D) infertility.

C) chromosomal defects in offspring.

An individual who is heterozygous for a gene has:

A) alleles at a given locus that are different from one another.
B) alleles at a given locus that are the same.
C) alleles at different loci that are the same.
D) a recessive gene on chromosomal pairs.

A) alleles at a given locus that are different from one another.

Which of the following genetic diseases manifests with progressive dementia in middle to later adulthood?

A) Duchenne muscular dystrophy
B) Cystic fibrosis
C) Achondroplasia
D) Huntington disease

D) Huntington disease

Which of the following is an accurate characteristic of an autosomal recessive pedigree?

A) On average, 50% of the children will have the autosomal recessive disease if one parent has the disease.
B) Males are affected more than females.
C) On average, 25% of the children are affected by the autosomal recessive disease if both parents are carriers.
D) There is a decreased risk of disease with consanguinity.

C) On average, 25% of the children are affected by the autosomal recessive disease if both parents are carriers.

Which of the following genetic diseases is transmitted through autosomal recessive inheritance?

A) Duchenne muscular dystrophy
B) Cystic fibrosis
C) Hemophilia
D) Huntington disease

B) Cystic fibrosis

A couple has two offspring; one child has an autosomal recessive disease trait and one is normal. What conclusions can you make about the parents?

A) One parent must have the autosomal recessive disease.
B) Both parents must have the autosomal recessive disease.
C) One parent is a carrier for the autosomal recessive gene and the other parent is normal.
D) Both parents could be carriers.

D) Both parents could be carriers.

The gene defect on the long arm of chromosome 7 in cystic fibrosis results in:

A) delayed development of the central nervous system.
B) clotting abnormalities and prolonged bleeding.
C) defective chloride transportation, causing abnormally thick mucus.
D) abnormal bone growth.

C) defective chloride transportation, causing abnormally thick mucus.

A couple is planning to have children. The father is affected by an autosomal dominant disease, but the mother does not have the disease gene. If the father is a heterozygote, what is the chance that their first child will be affected by the autosomal dominant disease?

A) 100%
B) 75%
C) 50%
D) 25%

C) 50%

Neurofibromatosis can vary in disease:

A) genotype.
B) penetrance.
C) age of onset.
D) expressivity.

D) expressivity.

Which of the following is an accurate characterization of an X-linked recessive pedigree?

A) Disease is seen more often in males than females.
B) A pattern of skipped generations is rare.
C) Males are gene carriers.
D) Mothers usually transmit the disease to their daughters.

A) Disease is seen more often in males than females.

Steven has Duchenne muscular dystrophy. He inherited this condition from his:

A) mother only.
B) father only.
C) mother and father.
D) mother or father.

A) mother only.

Multifactorial inheritance describes the transmission of traits or diseases that are determined by:

A) genes and environmental factors.
B) multiple mutations occurring in the same family.
C) cloning.
D) inheritance of multiple diseases from the same parent.

A) genes and environmental factors.

Diseases that have been described as having multifactorial traits include all of the following except:

A) breast cancer.
B) cystic fibrosis.
C) hypertension.
D) heart disease.

B) cystic fibrosis.

The goal of the Human Genome Project was to:

A) map all of the known genetic diseases.
B) identify the structure of DNA.
C) identify the location of all the human genes.
D) identify the structure of DNA and the location of all human genes as well as map all known genetic diseases.

C) identify the location of all the human genes.

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