Human Genetics Unit Test Study Guide

What will the test be like?

• About 50 – 60 multiple choice type questions
• Completely scantron ~ bring a pencil!
• Closed note

What will be on the test?

Sex-Linked Traits ~ You should be able to:

• explain the difference between the X and Y chromosome
• distinguish between autosomes and sex chromosomes
• use a punnett square to show why there is a 50% chance that each baby born will be male vs. female
• use punnett squares to solve sex-linked genetics problems
• explain why males are more likely to inherit a sex-linked disorder than females
• state which cell determines the sex of baby
• explain why males always inherit sex-linked traits from their mother.

Karyotypes ~ You should be able to:

• explain what karyotypes are and why they are done
• explain how to make a karyotype
• analyze a picture or drawing of a karyotype
o determine the sex of the individual the karyotype is for
o determine whether the karyotype is normal or abnormal
o identify any abnormalities present
define and discuss the symptoms of Down, Turner, and Klinefelter’s syndromes

Chromosomal Mutations ~ You should be able to:

• explain the different types of chromosomal mutations discussed in class
• identify pictures or drawings that represent the chromosomal mutations discussed in class

Pedigrees ~ You should be able to:

• explain what pedigrees are and what they are used for

• trace genetic traits and disorders through a family pedigree

• determine the genotypes of individuals based on the presence or absence or certain traits

• discuss the different types of traits that can be shown on a pedigree

• solve genetic problems based on information obtained from a pedigree

What can I do to study for the test?

• Read through all of your notes

• Cover up your hard notes and answer your soft note questions without looking
 • Learn your vocabulary ~ make flash cards to help you

• Check out the online activities for chapter 12

• Complete this study guide and the study worksheets provided for you

• Make sure you can do all of the things listed on this sheet WITHOUT YOUR NOTEBOOK OPEN!

• ASK FOR HELP IF YOU ARE CONFUSED!

Human Genetics Study Questions

1. Compare and contrast the X and the Y chromosome by filing in the t-chart below

Characteristics of the X chromosome Characteristics of the Y chromosome

2. Baldness is a sex-linked recessive disorder. Let XB = the allele for no baldness and Xb = the allele for baldness.
Use a punnett square to cross a bald male with a female that is heterozygous for baldness. List the possible
genotypes and phenotypes of this cross.
 3. Explain why males are more likely to inherit a sex-linked disorder than females.

Multiple Choice Practice

4. In humans, the sex of a child is determined by

a. the egg cell c. chromosome #21

b. the sperm cell d. the autosomes

5. Males most often inherit sex-linked disorders from their

a. mother c. sister

b. father d. brother

6. Which of the following is NOT true about karyotypes?

a. Sex chromosomes are placed last

b. Chromosomes are matched with their homologous partner

c. Homologous pairs are placed in order from smallest to largest

d. Homologous pairs of autosomes are numbered 1-22 for humans

7. Which of the following is NOT true about pedigrees?

a. Males are represented by squares

b. Females are represented by circles

c. Shapes are shaded to show the presence or absence of a trait

d. They show only sex-linked disorders in a family

8. Down syndrome occurs when

a. an X chromosome missing c. a male as an extra X chromosome

b. there is an extra 21st chromosome d. there is an extra 23rd chromosome

 9. Which of the following is NOT true about Turner Syndrome?

a. Females have only one X chromosome

b. Individuals are sterile

c. Symptoms may include a webbed neck and abnormal bone development

d. Individuals are mentally retarded and cannot function in society on their own.

10. A transposon is a gene that

a. gets duplicated

b. “jumps” to another section of the chromosome

c. gets deleted

d. is attached to the end of a non-homologous chromosome

The pedigree below shows the inheritance of albinism, which is an autosomal recessive disorder. Shapes that are colored
in represent albino individuals. Use this information to answer the questions that follow.

11. What is the relationship between individuals A and B?

A B

12. What is the relationship between individuals C and D?

C E F

D 13. What is the relationship between individuals A and D?

G H

14. If individual C marries a man that is heterozygous for albinism, what percentage of their children will suffer from the
disorder? Draw a punnett square to show your work.

15. What is the genotype and phenotype of individual H?

16. What are the possible genotypes for individual E?

17. If individual D marries a woman that is heterozygous, is it possible for them to have an albino child? Explain.
Use the karyotype below to answer the questions that follow.

18. Is this karyotype normal? If not, what is abnormal

about it?

23. Explain the process of making a karyotype. What is done and how is it put together?

19. Would this person be considered a male or a female?

24. Why would a doctor want to do a karyotype for an individual?

25. What is a nondisjunction disorder?

26. What are 3 examples of nondisjunction disorders?

27. Explain the cause of a nondisjunction disorder.