Human Genetics Notes Name

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 / Description
Substitution
Insertion
Or Deletion
Silent Mutation
Missense Mutation
Nonsense Mutation
Frameshift Mutation

Chromosomal Mutations

Chromosomal mutations that affect part of a chromosome:

Type of Chromosomal Mutation / Description / Illustration
Deletion
Duplication
Inversion
Translocation

Chromosomal mutations that affect an entire chromosome:

Nondisjunction –

Effects of Nondisjunction:

Trisomy / Illustration / Monosomy

Chromosomal mutations that affect an entire set(s) of chromosomes:

Polyploidy –

Human Chromosomes

Vocabulary / Description
Karyotype
Sex
Chromosomes
Autosomes
Linked Genes
Sex-Linked
Inheritance
Pedigree

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.

Blood Types
Phenotype / Genotype(s)
A / IAIA or IAi
B / IBIB or IBi
AB / IAIB
O / 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.

1. 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.

1. 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.

1. Predict the possible genotypes and phenotypes of the offspring produced from two roan cattle.