Question 1

What pattern of inheritance is most often associated with disorders of mitochondrial function?

Accepted Answer

A)  Autosomal dominant 
B)  Autosomal recessive 
C)  Maternal inheritance 
D)  X-linked dominant 
E)  X-linked recessive 
A)  Autosomal dominant 
B)  Autosomal recessive 
C)  Maternal inheritance 
D)  X-linked dominant 
E)  X-linked recessive B

Question 2

Individuals with defects in the biogenesis for this organelle have defects in fatty acid oxidation and biosynthesis of certain phospholipids.

Accepted Answer

A)  Lysosome 
B)  Peroxisome 
C)  Mitochondria 
D)  Nucleus 
E)  Golgi apparatus 
A)  Lysosome 
B)  Peroxisome 
C)  Mitochondria 
D)  Nucleus 
E)  Golgi apparatus B

Question 3

Deficiency for what enzyme is the most common cause of female genital virilization?

Accepted Answer

A)  11b-hydroxylase 
B)  Desmolase 
C)  3b-hydroxysteroid dehydrogenase 
D)  5a-reductase 
E)  21-hydroxylase 
A)  11b-hydroxylase 
B)  Desmolase 
C)  3b-hydroxysteroid dehydrogenase 
D)  5a-reductase 
E)  21-hydroxylase E

Question 4

For which of the following disorders would prenatal genetic diagnosis be particularly difficult?

Accepted Answer

A)  Cystic fibrosis 
B)  Down syndrome 
C)  Lesch-Nyhan syndrome 
D)  MERRF 
E)  Tay-Sachs disease 
A)  Cystic fibrosis 
B)  Down syndrome 
C)  Lesch-Nyhan syndrome 
D)  MERRF 
E)  Tay-Sachs disease

Question 5

Which of the following may be associated with hyperphenylalaninemia that is refractory to management of dietary phenylalanine?

Accepted Answer

A)  Tetrahydrobiopterin deficiency 
B)  Complete loss of phenylalanine hydroxylase activity 
C)  Dominant negative mutation in phenylalanine hydroxylase 
D)  Maternal PKU 
E)  Deficiency in phenylalanine uptake 
A)  Tetrahydrobiopterin deficiency 
B)  Complete loss of phenylalanine hydroxylase activity 
C)  Dominant negative mutation in phenylalanine hydroxylase 
D)  Maternal PKU 
E)  Deficiency in phenylalanine uptake

Question 6

What modification has increased the success of enzyme replacement therapy for Gaucher disease?

Accepted Answer

A)  Using larger doses of enzyme 
B)  Targeting the enzyme to cross the blood-brain barrier 
C)  Modifying the enzyme so that it is targeted to macrophage lysosomes 
D)  Providing the enzyme in conjunction with a bone marrow transplant 
E)  Removal of the spleen before treatment 
A)  Using larger doses of enzyme 
B)  Targeting the enzyme to cross the blood-brain barrier 
C)  Modifying the enzyme so that it is targeted to macrophage lysosomes 
D)  Providing the enzyme in conjunction with a bone marrow transplant 
E)  Removal of the spleen before treatment

Question 7

Reduced melanin production in individuals with phenylketonuria is a result of deficiency for which of the following?

Accepted Answer

A)  Phenylalanine 
B)  Tyrosine 
C)  Thyroxine 
D)  Acetoacetic acid 
E)  Ketones 
A)  Phenylalanine 
B)  Tyrosine 
C)  Thyroxine 
D)  Acetoacetic acid 
E)  Ketones

Question 8

How does MCAD deficiency usually present?

Accepted Answer

A)  In adulthood, with myopathy 
B)  In early childhood, after an illness that leads to fasting 
C)  In childhood, with progressive vision loss 
D)  In early adulthood, with a thrombotic event 
E)  Any of the above 
A)  In adulthood, with myopathy 
B)  In early childhood, after an illness that leads to fasting 
C)  In childhood, with progressive vision loss 
D)  In early adulthood, with a thrombotic event 
E)  Any of the above

Question 9

What is the primary defect causing familial hypercholesterolemia?

Accepted Answer

A)  Defective or deficient LDL receptors 
B)  Defective HMG-CoA reductase 
C)  Deficiency of acyltransferase 
D)  Deficiency of phospholipase C 
E)  Deficiency of hexosaminidase A 
A)  Defective or deficient LDL receptors 
B)  Defective HMG-CoA reductase 
C)  Deficiency of acyltransferase 
D)  Deficiency of phospholipase C 
E)  Deficiency of hexosaminidase A

What pattern of inheritance is most often associated with disorders of mitochondrial function?

Individuals with defects in the biogenesis for this organelle have defects in fatty acid oxidation and biosynthesis of certain phospholipids.

Deficiency for what enzyme is the most common cause of female genital virilization?

For which of the following disorders would prenatal genetic diagnosis be particularly difficult?

Which of the following may be associated with hyperphenylalaninemia that is refractory to management of dietary phenylalanine?

What modification has increased the success of enzyme replacement therapy for Gaucher disease?

Reduced melanin production in individuals with phenylketonuria is a result of deficiency for which of the following?

How does MCAD deficiency usually present?

What is the primary defect causing familial hypercholesterolemia?

The History and Impact of Genetics in Medicine

The Cellular and Molecular Basis of Inheritance

Chromosomes and Cell Division

Dna Technology and Applications

Mapping and Identifying Genes for Monogenic Disorders

Developmental Genetics

Patterns of Inheritance

Population and Mathematical Genetics

Polygenic and Multifactorial Inheritance

Hemoglobin and the Hemoglobinopathies

Pharmacogenetics

Immunogenetics

Cancer Genetics

Genetic Factors in Common Diseases

Congenital Abnormalities and Dysmorphic Syndromes

Genetic Counseling

Chromosome Disorders

Single-Gene Disorders

Screening for Genetic Disease

Prenatal Testing and Reproductive Genetics

Risk Calculation

Treatment of Genetic Disease

Ethical and Legal Issues in Medical Genetics

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Exam 11: Biochemical Genetics

What pattern of inheritance is most often associated with disorders of mitochondrial function?

Individuals with defects in the biogenesis for this organelle have defects in fatty acid oxidation and biosynthesis of certain phospholipids.

Deficiency for what enzyme is the most common cause of female genital virilization?

For which of the following disorders would prenatal genetic diagnosis be particularly difficult?

Which of the following may be associated with hyperphenylalaninemia that is refractory to management of dietary phenylalanine?

What modification has increased the success of enzyme replacement therapy for Gaucher disease?

Reduced melanin production in individuals with phenylketonuria is a result of deficiency for which of the following?

How does MCAD deficiency usually present?

What is the primary defect causing familial hypercholesterolemia?

The History and Impact of Genetics in Medicine

The Cellular and Molecular Basis of Inheritance

Chromosomes and Cell Division

Dna Technology and Applications

Mapping and Identifying Genes for Monogenic Disorders

Developmental Genetics

Patterns of Inheritance

Population and Mathematical Genetics

Polygenic and Multifactorial Inheritance

Hemoglobin and the Hemoglobinopathies

Pharmacogenetics

Immunogenetics

Cancer Genetics

Genetic Factors in Common Diseases

Congenital Abnormalities and Dysmorphic Syndromes

Genetic Counseling

Chromosome Disorders

Single-Gene Disorders

Screening for Genetic Disease

Prenatal Testing and Reproductive Genetics

Risk Calculation

Treatment of Genetic Disease

Ethical and Legal Issues in Medical Genetics

Filters