1. Chapter 14: The Human Genome
What makes you, you?

2. 14-1: Human Heredity What is a karyotype?
Picture of chromosomes arranged in homologous pairs
Homo means what?
A typical human being has 46 chromosomes
2 are sex chromosomes
Male: XY
Female: XX
44 are autosomes
See Figure 14-1 page 341
Analyze this karyotype and identify the person’s sex

3. 50:50 chance of being male or femaleX X
See the Punnett square on page 342 XX XY X Y

4. Pedigree Charts Tool used to show the relationships within a family
Can show how a trait or genetic diseases is passed through generations
See Figure 14-3 on page 342
Who does a circle represent? What about a square? What does shading represent?

5. Human Genes
The human genome is our complete set of genetic information
Includes tens of thousands of genes
Sequence of DNA determines characteristics like eye color, blood type, structure of proteins (just to name a few)
Sequence completed in 2000

6. Genetic Disorders Recessive alleles Dominant alleles
Co-dominant alleles
See pg. 345 Table 14-6
Can you list a few genetic disorders?

7. 14-2 Human Chromosomes Sometimes, things go wrong with the chromosomes
Sex linked genes
Chromosomal disorders
X-chromosome inactivation

8. Sex-linked genes
There is a special pattern of inheritance for genes located on the X and Y chromosomes
Sex linked = genes located on the sex chromosomes
X chromosome is larger than the Y chromosome
More genes on the X chromosome

9. Sex-linked genes (cont.)
Why is this important?
Boys are at a disadvantage!!
Sex linked disorders include:
Color blindness, hemophilia, Duchenne muscular dystrophy
Males have 1 X chromosome (meaning, they only have to inherit one bad gene to get the disease)
Women have 2 X chromosomes (it’s like a back up)
They will be a carrier, but not affected

10. Chromosomal Disorders
Most of the time, the mechanisms that separate chromosomes in meiosis works very well.
But, things can go wrong
Common error: non-disjunction
not coming apart
Non-disjunction = abnormal # of chromosomes
See Figure page 352

11. Common Chromosomal Disorders
Down’s Syndrome
Autosomal
Trisomy 21
Take a look at Figure (pg. 353) … what do you notice?
Sex chromosome disorders
Extra or too few sex chromosome
Turners (female: XO)
Klinefelter (male: XXY, XXXY,)

12. Human Molecular Genetics
Gene therapy
An absent or faulty gene is replaced by a normal, working gene
Sequencing the human genome
Ethical issues?