(GMN) Genetic Disorders and Karyotypes Introduction Lesson
It's In Your Genes
Genetic Disorders
Genetic disorders are diseases whose root cause is a mutation in the genome. The cause of genetic disorders may be from:
- a single point mutation (monogenic inheritance disorder)
- multiple genes with point mutations (multifactorial inheritance disorder)
- a combination of both inherited and environmental mutations
- chromosomal mutations (chromosomal disorder)
We will focus on some of the more well-known monogenic and chromosomal disorders in this lesson. You are responsible for knowing the basic information that would characterize each disorder as well as what type of genetic error causes it.
The Number 46
Take a Look at the Karyotypes Below
Normal Karyotype |
Trisomy 21 Karyotype |
|
|
This particular karyotype shows a condition called trisomy 21, meaning that there are 3 of the 21st chromosome. An individual with trisomy 21 displays Down Syndrome.
Genetic Disorders Challenge and Before You Go
Practice Time! Use the knowledge you learned from the lesson to complete the practice activities below.
Before You Go - You Need To Know
- What is a genetic disorder?
- A disease whose cause is due to a mutation in the genome.
- What are the four categories of genetic disorders?
- Dominant Allele Disorders
- Recessive Allele Disorders
- Sex-Linked Disorders
- Chromosomal Disorders.
- What is a karyotype?
- A picture of the chromosomes in a cell. It is used to look for abnormalities in the genome.
IMAGES CREATED BY GAVS (FREEPIK)