Lab: Genetic Disorders

Learning Goals: write out clearly in lab book (1 point)

1. I can assemble a karyotype of an organism properly for analysis and use it to determine

information about the individual including sex and disorders.

2. I can explain the significance of karyotypes to chromosomal disorders and genetics found in

populations.

Prelab Questions: write out question clearly and answer completely (various points)

1. What is the function of a karyotype?

2. Describe how a karyotype is laid out for analysis by geneticists.

3. What are the two types of chromosomes found in a karyotype?

Procedures:

Part I: Normal Karyotypes (6 points)

1. Go to Make a Karyotype (http://learn.genetics.utah.edu/content/basics/karyotype/).

2. Print out or take a picture of the completed karyotype and secure it into your lab book.

3. Analyze the karyotype and identify the sex of the individual in your lab book.

4. Describe four unique characteristics of the karyotype and justify each unique characteristic.

Part II: Abnormal Karyotypes

1. Go to Karyotyping Activity through The Biology Project

(http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html).

2. Go to Patient History’s and review the patient information.

3. Complete each patient’s karyotype according to the directions.

4. Print out or take a picture of the completed karyotypes, secure, and label them in your lab

book.

5. Analyze and answer the questions that follow each karyotype.

6. In your lab teams and on a separate sheet of paper, create a poster of the disorder for the

parents of a child that may have this disorder. In addition to your name and class period, the

brochure must include description of disorder, support information (websites, hotlines, support

groups), life expectancy, and references (MLA or APA format). (10 points)

Genetic Disorders Reference Chart

Down Syndrome Trisomy 21

Patau Syndrome Trisomy 13

Edward Syndrome Trisomy 18

Klinefelter Syndrome XXY sex chromosomes

Turner Syndrome X sex chromosome only

Cri Du Chat Syndrome One chromosome 5 will have a shortened

chromatid

Postlab Analysis & Communication:

1. The Y chromosome closely resembles many of the other chromosomes. How is it identified

from the other chromosomes? (1 point)

2. Given the information on the karyotype and what you know of biology, what are the diploid

(2n) and haploid (n) number of chromosomes for the species represented? (2 points)

3. During what cellular reproduction process (mitosis or meiosis) are cells photographed for

karyotypes? (1 point)

4. During which phase of the reproductive process are cells photographed for karyotype? (1

point)

Synthesis Questions:

1. Why are karyotypes important tools for geneticists? (1 point)

2. Do organisms with chromosomal disorders survive long enough to reproduce in a population?

Why do you think this? (2 points)

3. Why do chromosomal disorders continue to exist in a population? (1 point)