Human Genetics Notes
Name:
Biology 5.0
Date:
Period:
Activating Prior Knowledge:
1. Identify the monomer of proteins.
2. Identify the monomer of nucleic acids.
3. Name the three parts of the monomer in question two.
4. Name the four bases found in a molecule of DNA.
5. Identify the base pairing rules found in DNA. What type and how many bonds are between each base pair?
6. What is the name of the process by which DNA makes a copy of itself? When does this occur during the
cell cycle?
7. Which base is found only in DNA? Which base replaces it in RNA?
8. Identify, in order, the two step of protein synthesis. State where each step occurs within the cell.
9. Distinguish between the terms codon and anticodon and state where each is found.
10. Distinguish between the terms diploid and haploid and give an example of each type of cell.
11. Name the male and female gamete. How many chromosomes do each human gamete contain?
Matching.
A. Prophase
B. Metaphase
C. Anaphase
D. Telophase
______ 12. The chromosomes separate and begin to move to opposite sides of the cell
______ 13. The chromosomes become visible. The centrioles take up positions on opposite sides of the nucleus.
______ 14. A nuclear envelope reforms around each cluster of chromosomes. The nucleolus becomes visible in
each daughter nucleus.
______ 15. The chromosomes line up across the center of the cell.
Use the terms mitosis and meiosis to answer questions sixteen through twenty-three.
_______________ 16. Four new cells are formed from each original
_______________ 17. This process makes sperm cells
_______________ 18. Two new cells are produced from each original
_______________ 19. New skin cells are made this way
_______________ 20. This type of reproduction helps you grow
_______________ 21. This type of cell reproduction makes egg cells
_______________ 22. Makes cells with half the original chromosome number
_______________ 23. Makes cells with the same chromosome number as the original.
24. What is segregation? When does it occur during meiosis?
25. What process can happen during Prophase I of meiosis to separate genes found on the
same chromosome?
26. Distinguish between the terms genotype and phenotype and give an example of each.
27. Distinguish between the terms homozygous and heterozygous and give an example of
each.
Mutations – Section 13.3
What is a mutation? When does it occur?
Type of
Mutation
Germ Mutation
Somatic Mutation
Cell(s)
Affected
Impact
Types of Mutations
Gene Mutation
Chromosomal Mutation
Mutagens:

Chemical:

Physical:
What is a point mutation? It is a (gene/chromosomal) mutation (circle one).
Gene Mutations
Type of Point
Mutation
Substitution
Insertion
Or Deletion
Silent
Mutation
Missense
Mutation
Nonsense
Mutation
Frameshift
Mutation
Description
Chromosomal Mutations
Chromosomal mutations that affect part of a chromosome:
Type of
Chromosomal
Mutation
Deletion
Duplication
Inversion
Translocation
Description
Illustration
Chromosomal mutations that affect an entire chromosome:
Nondisjunction –
Effects of Nondisjunction:
Trisomy
Illustration
Chromosomal mutations that affect an entire set(s) of chromosomes:
Polyploidy –
Monosomy
Human Chromosomes
Vocabulary
Karyotype
Sex
Chromosomes
Autosomes
Linked Genes
Sex-Linked
Inheritance
Pedigree
Description
Human Genetic Disorders
Chromosomal Disorders
Karyotypes
Autosomes –
Sex Chromosomes –
Down Syndrome
Turner Syndrome
Klinefelter’s Syndrome
Jacobson’s
Disorders Caused By Individual Genes
Pedigrees
Patterns of Inheritance:
1.
2.
3.
Autosomal Recessive Pedigree:
Examples:
Autosomal Dominant Pedigree:
Examples:
Sex-Linked Pedigree
Examples:
Mendelian
Genetics
Chromosomal
Abnormalities
Multifactorial
Inheritance
Biology Keystone Exam Preparation
Human Genetics
1. In humans, the gene for polydactyly (having extra fingers or toes) is dominant over the gene for normal
number of digits. If parents who are both homozygous dominant for polydactyly have four children, how
many of these children would most likely have extra fingers or toes?
A. 0
B. 2
C. 3
D. 4
2. Which mutation in a fruit fly could be passed on to its offspring?
A. a mutation in a cell of an eye that changes the color of the eye
B. a mutation in a leg cell that causes the leg to be shorter
C. a mutation in a sperm cell that changes the shape of the wing
D. a mutation in a cell of the digestive tract that produces a different enzyme
3. The diagram below shows a normal gene sequence and three mutated sequences of a segment of DNA.
Which row in the chart below correctly identifies the cause of each type of mutation?
A. Row 1
B. Row 2
C. Row 3
D. Row 4
4. A cross between two plants that have pink flowers produced plants that have red, pink, or white flowers.
Which is the most likely explanation for these results?
A. Intermediate inheritance involved alleles that were not clearly dominant or recessive.
B. Mutations occurred during gametogenesis.
C. Crossing-over of white and red alleles occurred during meiosis.
D. Nondisjunction of homologous pairs of chromosomes resulted in the production of
abnormal offspring.
5. A scientist observes that a certain trait is determined by a single allele. An organism inherited one version
of the trait from one parent and another version form the other parent. Both versions of the trait are
expressed in the phenotype of the offspring. Which pattern of inheritance best classifies the observed trait?
A. dominance
C. co-dominance
B. sex-linkage
D. incomplete dominance
6. A mutation occurs at the midpoint of a gene, altering all amino acids encoded after the point of the
mutation. Which mutation could have produced this change?
A. deletion of two nucleotides
C. insertion of six nucleotides
B. deletion of three nucleotides
D. insertion of twelve nucleotides
Use the table below to answer question 7.
Phenotype
A
B
AB
O
Blood Types
Genotype(s)
IAIA or IAi
IBIB or IBi
IAIB
ii
7. Blood type is inherited through multiple alleles, including IA, IB, and i. A child has type A blood. If the
father has type AB blood, what are all the possible phenotypes of the mother?
A. phenotypes O and A
C. phenotypes A, B, AB
B. phenotypes A or AB
D. phenotypes O, A, B, AB
8. In a flowering plant species, red flower color is dominant over white flower color. What is the genotype of
any red-flowering plant resulting from this species?
A. red and white alleles present on one chromosome
B. red and white alleles present on two chromosomes
C. a red allele present on both homologous chromosomes
D. a red allele present on at least one of two homologous chromosomes
9. A genetic mutation resulted in a change in the sequence of amino acids of a protein, but the function of the
protein was not changed. Which statement best describes the genetic mutation?
A. It was a silent mutation that caused a change in the DNA of the organism
B. It was a silent mutation that caused a change in the phenotype of the organism
C. It was a nonsense mutation that causes a change in the DNA of the organism
D. It was a nonsense mutation that caused a change in the phenotype of an organism
Use the diagram below to answer question 10.
10. Which type of change in chromosome composition is illustrated in the diagram?
A. deletion
B. insertion
C. inversion
D. translocation
Base your answers to questions 11 and 12 on the pedigree chart below, which shows a history of ear lobe shape,
and on your knowledge of biology.
11. The genotype of individual 1 could be
A. EE, only
B. Ee, only
C. ee
D. EE or Ee
12. The genotype of individual 2 could be
A. EE, only
B. Ee, only
C. ee
D. EE or Ee
13. A cattle farmer genetically crosses a cow (female) with a white coat with a bull (male) with a red coat. The
resulting calf (offspring) is roan, which means there are red and white hairs intermixed in the coat of the
calf. The genes for coat color in cattle are co-dominant.
A. Although a farm has cattle in all three colors, the farmer prefers roan cattle over white or red cattle. Use
the Punnett square to show a cross that would produce only roan offspring.
B. Explain how a roan calf results from one white- and one red-coated parent. In your explanation, use the
letters to represent genes. Be sure to indicate what colors the letters represent.
C. Predict the possible genotypes and phenotypes of the offspring produced from two roan cattle.