Section 2 Human Genetic Disorders

1 st three terms…also in next 3 slides! Genetic disorder - an abnormal condition that a person inherits through genes or chromosomes Genetic disorder - an abnormal condition that a person inherits through genes or chromosomes Pedigree – a chart or “family tree” that tracks which members of a family have a particular trait Pedigree – a chart or “family tree” that tracks which members of a family have a particular trait Karyotype – a picture of all the chromosomes in a cell Karyotype – a picture of all the chromosomes in a cell

Genetic Disorders An abnormal condition that a person inherits through genes or chromosomes An abnormal condition that a person inherits through genes or chromosomes

Indonesia’s 37 year old Dede otherwise known as “tree man” has been suffering from a rare disease characterized by gnarled warts all over his body due to which his body resembles the bark of a tree and hence the name tree man.

Pedigree: a chart or “family tree” that tracks which members of a family have a particular trait

Karyotype: a picture of all the chromosomes in a cell a picture of all the chromosomes in a cell

Skip down to #1: 1. An abnormal condition that a person inherits through genes or chromosomes is called a(n)genetic disorder 1. An abnormal condition that a person inherits through genes or chromosomes is called a(n)genetic disorder

2. What causes genetic disorders? Mutations, or changes in a person’s DNA changes in the number of chromosomes changes in the overall structure of chromosomes

Human Genetic Disorders

Limb Mammary Syndrome

3. What is cystic fibrosis?. a genetic disorder where the body produces abnormally thick mucus in the lungs and intestines.

Cystic Fibrosis

4. Cystic Fibrosis caused by a recessive allele on one chromosome. caused by a recessive allele on one chromosome. The recessive allele is the result of a mutation where three bases are removed from a DNA molecule The recessive allele is the result of a mutation where three bases are removed from a DNA molecule NOT sex-linked!! NOT sex-linked!!

5. Sickle-Cell Disease Affects hemoglobin – a protein in red blood cells that carries oxygen Affects hemoglobin – a protein in red blood cells that carries oxygen Normal red blood cell sickle shaped red blood cell

Sickle Cell Disease Sickle-shaped red blood cells clog blood vessels and can’t carry as much oxygen as normal cells. Sickle-shaped red blood cells clog blood vessels and can’t carry as much oxygen as normal cells.

6. Sickle Cell can be codominant with the normal allele!!! This means a person that is heterozygous for sickle cell have a “mild” case of the full disease… This means a person that is heterozygous for sickle cell have a “mild” case of the full disease…

Hemophilia genetic disorder where a person’s blood clots very slowly or not at all genetic disorder where a person’s blood clots very slowly or not at all

#7 & #8 Hemophilia is caused by a recessive allele on the X chromosome Hemophilia is caused by a recessive allele on the X chromosome Because it’s sex linked – it occurs more often in males than in females Because it’s sex linked – it occurs more often in males than in females

9. Down Syndrome A person’s cells have an extra copy of chromosome 21 A person’s cells have an extra copy of chromosome 21

#10. Usually a result when chromosomes fail to separate properly during meiosis

11. Pedigrees A chart or “family tree” that tracks which members of a family have a certain trait is called a pedigree. A chart or “family tree” that tracks which members of a family have a certain trait is called a pedigree.

#12. Circles representfemales Circles representfemales Squares represent males Squares represent males Horizontal line connecting male and female represents marriage Horizontal line connecting male and female represents marriage Vertical line connects parents to children Vertical line connects parents to children

Managing Genetic Disorders 13. Tools used to help manage genetic disorders: They are helped through medical care, education, job training, and other methods. 13. Tools used to help manage genetic disorders: They are helped through medical care, education, job training, and other methods. Genetic Counseling – helps a couple understand their chances of having a child with a certain genetic disorder Genetic Counseling – helps a couple understand their chances of having a child with a certain genetic disorder

Karyotypes 14. this is a picture of all the chromosomes in a cell 14. this is a picture of all the chromosomes in a cell What does this person have?

? For you… Would a karyotype reveal the presence of sickle cell disease? Why or why not? Would a karyotype reveal the presence of sickle cell disease? Why or why not?

NO Sickle-cell disease is not related to the number of chromosomes in a cell Sickle-cell disease is not related to the number of chromosomes in a cell

How are people helped when they have a genetic disorder? medical treatments medical treatments education education job training job training

Back to the front data table:

Mini video on Karyotypes

Video Show Video on Sickle Cell Disease Show Video on Sickle Cell Disease