BIO 442 MENU
syllabus 
1 - genome
2 - mutate
3 -cell cycle
4 - karyotype
5 - chromoabn
6 -sex-determ
7 -prenatal
8 - mendelian
9 - complex
10 - non-trad
11 - clinical
12 - newborn
13 - teratog
14 - linkage
15 - DNA prof
16 - quanti
17 - links
18 - quizzes
(full title of lecture appears in status bar on the top or at the bottom of your window)
Biology 442 - Human Genetics
Quizzes Spring 2004
Quiz 1
Multiple Choice. Circle the letter(s) corresponding to ALL correct answers. There may be more than one.
1. Histones
a. are made of DNA
b. are proteins common to all eucaryotes
c. are coded for by multiple copy genes (a “gene family”)
d. are different for each different species
e. form part of the nucleosomes
2. Matching.
__C__Alu sequences
__A__rDNAs
__B__alpha satellite DNA
A. Nucleolar organizers (NORs)
B. Centromeres
C. SINE
3. Which of the above (on the left) are considered “repetitive DNA sequences”?
All of the above
4. Answer > greater than; < less than; or = equal to.
The number of genes (protein coding DNA sequences) in the human genome is ___<__ 105
Quiz 2
Multiple Choice. (4 pts) Circle the letter(s) corresponding to ALL correct answers. There may be more than one.
Which of the following are true of both mitosis and meiosis?
a. Preceded by DNA and histone synthesis
b. Formation of chromatids
c. Pairing of homologous chromosomes
d. Separation of chromatids
2. Matching. (4 pts)
Type of single base change mutations
___B__Missense
___A__Nonsense
___C__Silent
___A__Splice site
Consequence for protein product
A. Truncated protein
B. Substitution of a different amino acid
C. No change in amino acid sequence
3. Answer > greater than; < less than; or = equal to. (2 pts)
A. The amount of crossing over in spermatogenesis is __<___the amount of crossing over in oogenesis.
B. The genetic similarity of the first polar body with the egg is __<___the genetic similarity of the second polar body with the egg.
Quiz 3
1. (3 pts) Using what you know about mitosis and meiosis, explain how a horse and a donkey can produce a mule and why the mule is sterile. (Keep it simple.) The horse egg cell pronucleus (n=32) and the donkey sperm cell pronucleus (n=31) fuse to form a cell with 63 chromosomes. The formation of the embryo, fetus and baby mule involves only mitotic divisions in which each of the 63 chromosomes duplicate and a copy given to each new cell. However, when meiosis occurs (or attempts to occur) in the gonad of the mule (male or female mule) there is a problem because the chromosomes are not homologous and therefore cannot properly pair in meiosis I prophase. Meiosis fails as a result
2. (3 pts) Matching:
__C__teratogen
__A__mosaicism
__B__allelic heterogeneity
A. the existence of more than one cell line in a single individual
B. the existence of many mutations within a single gene
C. agent in the environment that causes an embryopathy
3. (4pts) MATCHING. More than one can be correct. Place the letter(s) corresponding to the correct answers in the blanks.
CELL TYPES
__C,D_____fibroblasts
__A_____amniotic fluid cells
__B,C,D_____lymphocytes
__B,D_____bone marrow cells
__A_____chorionic villi cells
KARYOTYPE FOR
A. prenatal testing
B. leukemia testing
C. products of conception; miscarriage, fetal demise, stillbirth
D. adult testing
Quiz 4
I. (4 pts) Matching.
Chromosome abnormality
___A__trisomy
___B__triploidy
___C__robertsonian translocation
___C__isochromosome
A. aneuploidy
B. Polyploidy
C. Structural change
II. (4 pts) Circle ALL correct answers.
Non disjunction
a. May occur in meiosis
b. May occur in mitosis
c. May result in aneuploidy
d. Is more common in meiosis II than I
III. (2 pts) Answer > greater than; < less than; or = equal to
The number of trisomies found in first trimester miscarriages is __>___ the number of trisomies found in newborns.
The risk of an amniocentesis causing a miscarriage is __=___ 1/200.
QUIZ 5
1. (4 pts) Multiple Choice. Circle ALL correct answers.
Which of the following prenatal tests can diagnose a Down syndrome fetus.
a. amniocentesis
b. Maternal serum AFP screening
c. Chorionic villus sampling
d. Ultrasound
2. (2 pt) Answer > greater than; < less than; or = equal to.
The number of breaks involved in the formation of a ring chromosome is __=__ the number of breaks involved in the formation of a pericentric inversion.
The risk of a male carrier of a robertsonian translocation having an abnormal child is __<__ the risk of a female carrier of the same translocation having an abnormal child.
3. (2 pts) Why was 35 years of age and over chosen as the age at which pregnant women are counseled and offered amniocentesis?
The risk of an amniocentesis causing a miscarriage is 1/200 and the risk of a woman of 35 years having a child with a chromosome abnormality is greater (1/134).
4. (2 pts) What is the significance of finding repetitive DNA sequences around regions of duplications and deletions of DNA?
Repetitive sequences can misalign and if crossing over occurs this can result in duplications in one chromosome and deletions in the other.
QUIZ 6
I. (8 pts) Multiple Choice. Circle ALL correct answers.
1. Which of the following are possible reasons for why a pregnant woman might have a positive MS-AFP screen for Trisomy 21?
a. The gestational age of the fetus was estimated incorrectly when the blood was drawn
b. The fetus is normal but has abnormal levels of the analytes measured
c. The fetus has Down syndrome
d. The fetus has an abdominal wall defect
2. Which of the following usually results in ambiguous external genitalia?
a. XX with SRY translocated to the X
b. XY with mutation in AMH (anti-Müllerian hormone) gene
c. XY with SRY deleted on the Y
d. XY with 5-alpha-reductase deficiency
II. (2 pts) Answer > greater than; < less than; or = equal to.
1. The need for the Xq arm for X inactivation __=___ the need for the Yp arm for testes formation.
2. The level of AFP in the maternal serum if the fetus has a NTD (neural tube defect) is __>__ the level of AFP in the maternal serum if the fetus has trisomy 18.
QUIZ 7
Matching.
Place the letter corresponding to the best answer in the space.
A. alleles
B. locus
C. allelic heterogeneity
D. variable expressivity
E. incomplete penetrance
F. anticipation
G. gonadal mosaicism
H. sporadic
I. genetic lethal
J. recessive trait
__E__ Some individuals with a specific genotype do not express the trait.
__J__ A pattern of inheritance where one normal allele is sufficient for normalcy.
__F__ Progressively earlier onset and increased severity of a genetic disease in successive generations.
__A__ Different forms of a gene
__H__ A disease caused by a new mutation.
__G__ The presence of a mutant gene in only some gametes of an individual
__I__ A mutation that results in infertility
__D__ Individuals with the same genotype express the trait differently.
__B__ A gene’s position on the chromosome
__C__ The existence in a population of many mutations of a single gene
Midterm Exam
Quiz 9
I. (4 pts) Multiple Choice. Circle ALL correct answers.
Which of the following are true of the inheritance of complex diseases?
a. they are usually single gene disorders which demonstrate a simple mendelian pattern of inheritance.
b. there is familial aggregation because relatives of an affected individual are more likely to have inherited disease predisposing alleles in common with the affected person
c. May show lack of concordance even between monozygotic twins
d. are expected to show greater concordance among MZ versus DZ twins
II. (6 pts)
a. Give an example of a multifactorial congenital malformation (other than pyloric stenosis). Neural tube defects, cleft lip/palate, hip dysplasia
b. Give an example of a multifactorial normal trait. Height, skin color, eye color, intelligence, fingerprint ridges
c. Pyloric Stenosis (muscular hypertrophy of the pylorus of the stomach, leading to intractable vomiting in infancy) is a multifactorial trait. It is more common in males than females.
If the mother in Family A is affected and the father is affected in Family B, explain which family has the greater risk of recurrence.
Family A, because the female had to have more predisposing genes to express the trait.
If the family with the greater risk were to have an affected child, is it more likely to be a male or female? Why? It would be more likely to be a male child who is affected since he would need fewer predisposing genes to manifest the trait.
QUIZ 10
I. (8 pts) Circle ALL correct answers.
1. Prader Willi Syndrome is
a. a multifactorial trait
b. an example of an imprinted gene problem
c. most often the result of a deletion in the paternal chromosome at 15q11-q13
d. a mitochondrial DNA mutation
2. Mitochondrial disorders
a. can be due to mutations in either nuclear or mitochondrial DNA
b. result only when all mitochondria in all cells have the mutation (homoplasmy)
c. are transmitted from father to son and mother to daughter
d. often involve mutations in the oxidative phosphorylation enzymes
II. (2 pts) Answer > greater than; < less than; or = equal to.
The number of polypeptide chains in hemoglobin is __=___ four.
The probability of PWS being due to uniparental disomy is __>__ the probability of Angelman syndrome (AS) being due to uniparental disomy.
Quiz 11
1. (1) What is/are the possible genotypes of an O negative (Rh) individual? There is only one: OO/--
2. (2 pts) Using standard nomenclature, what is the globin chain composition of
a. Adult hemoglobins:
HbA: alpha2 beta2
HbA2: alpha2 delta2b. Fetal hemoglobin: alpha2 gamma23. (1 pt) The most common cause of alpha thalassemia is what kind of mutation? whole gene deletion (due to misalignment and crossing over)
4. (1 pt) What is an ASO and how is it used in testing for Sickle Cell Disease or Sickle Cell trait? Allele Specific Oligonucleotides are short nucleotide chains synthesized to match either normal gene regions or regions of known mutations. In Sickle Cell testing, the patient's DNA is used as a template for a PCR reaction in the region of the missense mutation. The normal and mutant ASO are applied and depending on which hybridize to the patient's DNA, the person is determined to be homozygous normal (AA), heterozygous AS or homozygous mutant (SS).
5. Which of the following disorders are due to fibroblast growth factor receptor mutations?
a. Asphyxiating Thoracic Dystrophy
b. Osteogenesis imperfecta
c, Crouzon Syndrome
d. Achondroplasia
e. Thanatophoric Dysplasia
Quiz 12
1. Which of the following disorders are due to mutations in cell membrane proteins?
a. Hypercholesterolemia
b. Cystic fibrosis
c. Achondroplasia
d. Marfan syndrome
e. Thalassemia
2. Mutations in the gene for dystrophin
a. Cause acute intermittent porphyria
b. Are on the X chromosome
c. Are usually deletions of entire exons
d. Cause Duchenne Muscular Dystrophy
e. Cause Becker Muscular Dystrophy.
QUIZ 13
1. Which of the following is/are true of all lysosomal storage diseases (which are not X-linked)
a. an affected baby shows symptoms at birth
b. is/are due to mutations in acid hydrolase enzymes
c. the clinical symptom(s) is/are due to the lack of the product of the enzyme that is defective
d. recurrence rate in a family with an affected child is 50%
2a. If the incidence of cystic fibrosis in a population is 1/2500, the frequency of the CFTR gene is
a. 1/5
b. 1/25
c. 1/50
2b. The carrier frequency in that population is
d. 1/5
e. 1/25
f. 1/50
3. Inherited breast cancer, retinoblastoma, and NF1
a. manifest early in life
b. are triggered by a somatic mutation
c. are inherited in an autosomal dominant pattern
d. are controlled by tumor suppressor genes
