NURS 368 Final Exam Questions And
Correct Answers
Gene - ANSWER sequence of DNA that codes for a protein and thus determines a trait
basic units of heredity and basic physical unit of inheritance
passed from parents to offspring and contain information that specifies traits
arranged, one after another, on chromosomes
portion of a DNA strand corresponds to a gene
21,000 genes in the human genome
chromosome - ANSWER a threadlike structure of nucleic acids and protein found in the
nucleus of most living cells, carrying genetic information in the form of genes.
has a p arm (smaller), centromere, and q arm (longer)
alleles - ANSWER different versions of a gene
polymorphisms - ANSWER a common DNA mutation or variation of a gene
Genetics - ANSWER the study of heredity
genomics - ANSWER study of whole genomes (an organisms full set of DNA), including
genes and their functions
DNA - ANSWER deoxyribonucleic acid, a self-replicating material present in nearly all
living organisms as the main constituent of chromosomes. It is the carrier of genetic
information.
adenosin and thymine; guanine and cytosine
basic building block of genes
,epigenetics - ANSWER the study of environmental influences on gene expression that
occur without a DNA change
study of heiritable changes in gene expression or phenotype caused by mechanisms
other than changes in the DNA sequence
mechanisms- affected by factors and processes (development, environmental
chemicals, drugs/pharmaceuticals, aging, diet)
health endpoints- cancer, autoimmune disease, mental disorders, diabetes
telomere - ANSWER repetitive DNA at the end of a eukaryotic chromosome
protects end of chromosomes
high stress and illness cause shorter telomeres, decrease with aging
mutation - ANSWER a random error in gene replication that leads to a change
phenotype - ANSWER physical characteristics of an organism
genotype - ANSWER genetic makeup of an organism
congenital - ANSWER present at birth
gamete - ANSWER specialized cell involved in sexual reproduction
chromosomes are singular, then pair up to form alleles (one from mother and one from
father), either dominant or recessive
somatic - ANSWER pertaining to the body
haploid - ANSWER an organism or cell having only one complete set of chromosomes
,diploid - ANSWER containing two complete sets of chromosomes, one from each parent.
autosome chromosome - ANSWER chromosome that is not a sex chromosome
humans have 22 pairs of autosome chromosomes (44 total chromosomes)
sex chromosome - ANSWER one of the pair of chromosomes that determine the sex of
an individual
xx or xy chromosomes (make up a total of 46 chromosomes
homozygous - ANSWER having two identical alleles for a trait
dominant- AA, recessive- aa
heterozygous - ANSWER having two different alleles for a trait
Aa
autosomal dominant trait - ANSWER phenotype seen if at least 1 of the alleles in the
genotype codes for that phenotype (Ex AA or Aa)
usually affected offspring have 1 or both parents affected
mating of 1 affected with an unaffected person results in 50% affected offspring
two affected parents can have unaffected children
males and females equally affected
examples of autosomal dominant traits - ANSWER familial hypercholesterolemia (1 in
500)
polycystic kidney disease (1 in 500-1000)- adulthood, increase in BP, back pain, blood in
urine, UTIs, kidney stones, heart valve abnormalities, aneurysms
neurofibromatosis type 1 (1 in 3500)- cafe alait spots on newborns, neurofibromas,
benign
marfan syndrome (1 in 5000)- connective tissue problems, heart, blood vessels, joint
, problems
achondroplasia (dwarfism) (1 in 15000 to 40000)
huntington's disease (1 in 20000)- may not know they have it until after childbearing
years, mental/physical deterioration
autosomal recessive trait - ANSWER phenotype seen only if both alleles in the genotype
code for that phenotype (Ex- aa)
the traits of the recessive gene are present when both alleles (genes) in a pair are
recessive
a person who has only one recessive allele for a disorder is considered a carrier
carriers do not show signs of the disorder
tay sachs disease - ANSWER autosomal recessive disorder
ashkenazi jews, 1 in 3600 AJ people, 1 in 360,000 non-AJ
patient dies by 2-4, motor development, loss of all voluntary movement
visual deterioration, seizures, no cure
cystic fibrosis - ANSWER autosomal recessive disorder
more common in whites
1 in 2500-3500 children
frequency of carriers is 1 in 22
damage to lungs, sticky thick mucous
damage to organs
other autosomal recessive disorders - ANSWER albanism- complete lack of melanin
phenylketonuria (PKU)- newborn screen, increased level of fetal alinine, intellectual
disability
galactosemia- body processes galactose, leads to failure to thrive, liver failure, jaundice
sickle cell anemia
Correct Answers
Gene - ANSWER sequence of DNA that codes for a protein and thus determines a trait
basic units of heredity and basic physical unit of inheritance
passed from parents to offspring and contain information that specifies traits
arranged, one after another, on chromosomes
portion of a DNA strand corresponds to a gene
21,000 genes in the human genome
chromosome - ANSWER a threadlike structure of nucleic acids and protein found in the
nucleus of most living cells, carrying genetic information in the form of genes.
has a p arm (smaller), centromere, and q arm (longer)
alleles - ANSWER different versions of a gene
polymorphisms - ANSWER a common DNA mutation or variation of a gene
Genetics - ANSWER the study of heredity
genomics - ANSWER study of whole genomes (an organisms full set of DNA), including
genes and their functions
DNA - ANSWER deoxyribonucleic acid, a self-replicating material present in nearly all
living organisms as the main constituent of chromosomes. It is the carrier of genetic
information.
adenosin and thymine; guanine and cytosine
basic building block of genes
,epigenetics - ANSWER the study of environmental influences on gene expression that
occur without a DNA change
study of heiritable changes in gene expression or phenotype caused by mechanisms
other than changes in the DNA sequence
mechanisms- affected by factors and processes (development, environmental
chemicals, drugs/pharmaceuticals, aging, diet)
health endpoints- cancer, autoimmune disease, mental disorders, diabetes
telomere - ANSWER repetitive DNA at the end of a eukaryotic chromosome
protects end of chromosomes
high stress and illness cause shorter telomeres, decrease with aging
mutation - ANSWER a random error in gene replication that leads to a change
phenotype - ANSWER physical characteristics of an organism
genotype - ANSWER genetic makeup of an organism
congenital - ANSWER present at birth
gamete - ANSWER specialized cell involved in sexual reproduction
chromosomes are singular, then pair up to form alleles (one from mother and one from
father), either dominant or recessive
somatic - ANSWER pertaining to the body
haploid - ANSWER an organism or cell having only one complete set of chromosomes
,diploid - ANSWER containing two complete sets of chromosomes, one from each parent.
autosome chromosome - ANSWER chromosome that is not a sex chromosome
humans have 22 pairs of autosome chromosomes (44 total chromosomes)
sex chromosome - ANSWER one of the pair of chromosomes that determine the sex of
an individual
xx or xy chromosomes (make up a total of 46 chromosomes
homozygous - ANSWER having two identical alleles for a trait
dominant- AA, recessive- aa
heterozygous - ANSWER having two different alleles for a trait
Aa
autosomal dominant trait - ANSWER phenotype seen if at least 1 of the alleles in the
genotype codes for that phenotype (Ex AA or Aa)
usually affected offspring have 1 or both parents affected
mating of 1 affected with an unaffected person results in 50% affected offspring
two affected parents can have unaffected children
males and females equally affected
examples of autosomal dominant traits - ANSWER familial hypercholesterolemia (1 in
500)
polycystic kidney disease (1 in 500-1000)- adulthood, increase in BP, back pain, blood in
urine, UTIs, kidney stones, heart valve abnormalities, aneurysms
neurofibromatosis type 1 (1 in 3500)- cafe alait spots on newborns, neurofibromas,
benign
marfan syndrome (1 in 5000)- connective tissue problems, heart, blood vessels, joint
, problems
achondroplasia (dwarfism) (1 in 15000 to 40000)
huntington's disease (1 in 20000)- may not know they have it until after childbearing
years, mental/physical deterioration
autosomal recessive trait - ANSWER phenotype seen only if both alleles in the genotype
code for that phenotype (Ex- aa)
the traits of the recessive gene are present when both alleles (genes) in a pair are
recessive
a person who has only one recessive allele for a disorder is considered a carrier
carriers do not show signs of the disorder
tay sachs disease - ANSWER autosomal recessive disorder
ashkenazi jews, 1 in 3600 AJ people, 1 in 360,000 non-AJ
patient dies by 2-4, motor development, loss of all voluntary movement
visual deterioration, seizures, no cure
cystic fibrosis - ANSWER autosomal recessive disorder
more common in whites
1 in 2500-3500 children
frequency of carriers is 1 in 22
damage to lungs, sticky thick mucous
damage to organs
other autosomal recessive disorders - ANSWER albanism- complete lack of melanin
phenylketonuria (PKU)- newborn screen, increased level of fetal alinine, intellectual
disability
galactosemia- body processes galactose, leads to failure to thrive, liver failure, jaundice
sickle cell anemia
