Chapter 6 Flashcards
This is a permanent change in the DNA sequence.
A. DNA methylation
B. Histone Modification
C. Genetic mutation
C. Genetic Mutation
This type of mutation is present throughout all cells of the body.
A. Somatic
B. Germ
C. Sporatic
B. Germ
This type of mutation is localized to a specific area of cells.
A. Somatic
B. Germ
C. Congenital
A. Somatic
A disorder, genetic or familial, that is transmitted to offspring
A. Congenital
B. Prenatal
C. Hereditary
C. Hereditary
All congenital disorders are hereditary. T/F
False
Which of the following involves the substitution of a single nucleotide base that results in the coding for a stop codon?
A. Frameshift mutation
B. Nonsense mutation
C. Point mutation
B. Nonsense mutation
Which of the following involves the substitution of a single nucleotide base that results in the coding for a different amino acid?
A. Frameshift mutation
B. Nonsense mutation
C. Point Mutation
C. Point mutation
Which of the following involves the instertion/deletion of 1 or 2 nucleotides that alters the codon reading area?
A. Frameshift mutation
B. Nonsense mutation
C. Trinucleotide repeat
A. Frameshift mutation
Which of the following involves the amplification of a 3 nucleotide sequence?
A. Frameshift mutation
B. Nonsense mutation
C. Trinuceotide repeat
C. Trinucleotide Repeat
Which of the following conditions is an example of a hereditary condition that is not congenital? A. Cleft lip B. Achondroplasia C. Congenital syphilis D. Muscular dystrophy
D. Muscular dystrophy
Autosomal recessive conditions typically express phenotypic changes in the ______ state.
A. Heterozygous
B. Homozygous
B. Homozygous
Autosomal dominant conditions need ___ allele change(s) or mutation(s).
A. 1
B. 2
C. 0
A. 1
Which of the following is the result of a mutation in the FBN1 gene encoding fibrillin?
A. Ehlers-Danlos syndrome
B. Cystic fibrosis
C. Marfan Syndrome
C. Marfan Syndrome
Fragile X syndrome is associated with which mutation?
A. Nonsense mutation
B. Trinucleotide repeat
C. Frameshift mutation
B. Trinucleotide repeat
Which area of the body is not commonly affected by Marfan syndrome? A. Hands B. Colon C. Aorta D. Eye
B. Colon
Which is the most common cause of death among people with Marfan syndrome? A. Accidental Fall B. Blood loss anemia C. Respiratory Infection D. Ruptured aortic aneurysm
D. Ruptured aortic aneurysm
Which of the following is a result of defective collagen synthesis?
A. Ehlers-Danlos syndrome
B. Cystic Fibrosis
C. Marfan syndrome
A. Ehlers-Danlos syndrome
Most contortionists are believed to have a form of \_\_\_\_\_\_, which causes hypermobile joints? A. Marfan syndrome B. Phenylketonuria C. Fragile X D. Ehlers-Danlos syndrome
D. Ehlers-Danlos syndrome
Hypercholesterolemia, caused by impaired LDL transport, is more severe/lethal in __________, and less severe in ________.
A. Heterozygous, Homozygous
B. Homozygous, Heterozygous
B. Homozygous, Heterozygous
Individuals with Homozygous Hypercholesterolemia commonly die of \_\_\_\_\_\_ before the age of 20. A. Xanthoma B. Aortic dissection C. Myocardial Infarction D. Cerebral Infarction
C. Myocardial Infarction
Cystic fibrosis is most common among what demographic?
A. African Americans
B. Ashkenazi Jews
C. Caucasians
C. Caucasians
Cystic Fibrosis is caused by a mutation in what gene?
A. LDLR gene
B. CFTR gene
C. RB gene
B. CFTR gene
90% of cystic fibrosis patients have ______.
A. infertility
B. Chronic GI infections
C. Pancreatic insufficiency
C. Pancreatic insufficiency
The CFTR gene, when mutated, will ________.
A. Decrease cholesterol transport
B. Decrease chloride ion absorption
C. Decrease collagen synthesis
B. Decrease chloride ion absorption
Children who lack phenylalanine hydroxylase will develop \_\_\_\_\_\_\_\_ if untreated in early life and commonly smell musty. A. Cutaneous xanthomas B. Cognitive deficit C. Myocardial infarction D. Vessel fragility
B. Cognitive deficit
In adulthood, phenylalanine is less dangerous, except when a woman is pregnant because Phenylalanine is a _______, meaning it can cross the placenta and cause harm to the fetus.
A. Neuortoxic
B. Water soluble
C. Teratogen
C. Teratogen
Galactosemia, caused by a mutated GALT gene, can be treated by ________.
A. GALT enzyme replacement
B. Lactose-free diet
C. nothing, its fatal
B. Lactose-free diet
Treatment of galactosemia may prevent many of the pathological effects of the condition, but _______ disorders may remain.
A. Cutaneous
B. Cardiac
C. Speech
C. Speech
Which patient population is most likely to be impacted by a lysosomal storage disease?
A. Infants
B. Adolescents
C. Elderly
A. Infants
Which condition involves the accumulation of Gm2 gangliosides within neurons and results in cognitive deficits?
A. Galactosemia
B. Tay-Sachs disease
C. Gaucher disease
B. Tay-Sachs disease
This disease is causes a Cherry Red Macula and commonly affects Ashkenazi Jews.
A. Niemann-Pick disease
B. Gaucher disease
C. Tay-Sachs disease
C. Tay-Sachs Disease
Which disease is not an enzyme deficiency?
A. Tay-Sachs
B. Niemann-Pick disease, Type A and B
C. Niemann-Pick disease, Type C
C. Niemann-Pick disease, Type C
Which of the following causes hepatosplenomegaly, osteolysis, Erlenmeyer Flask deformity, and pancytopenia?
A. Gaucher disease
B. Mucopolysaccharidosis
C. Niemann-Pick disease, Type C
A. Gaucher disease
Which of the following conditions commonly manifests with coarse facial features and corneal clouding?
A. Tay-Sachs disease
B. Niemann-Pick disease, Type C
C. Mucopolysaccharidosis
C. Muchopolysaccharidosis
The two forms of Mucopolysaccharidosis are different in the way they are inherited; Hurler syndrome is \_\_\_\_\_\_ and Hunter Syndrome is \_\_\_\_\_\_\_. A. X-linked, Autosomal Dominant B. X-linked, Autosomal Recessive C. Autosomal recessive, X-linked D. Autosomal Dominant, X-linked
C. Autosomal recessive, X-linked