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HUMAN GENOME
A. Human Genome – our complete set of genetic information
1. Consists of 44 autosomal chromosomes and 2 sex chromosomes
a. autosomes – NOT the sex chromosomes
2. Karyotype – picture of the 46 human chromosomes.
a. Human female has a karyotype of 46,XX
b. Human male has a karyotype of 46,XY
3. Human traits are decided by your genes and your environment.
B. Disorders
1. Autosomal disorders
a. Recessive alleles – Albinism, cystic fibrosis, PKU, Tay-Sachs
b. Dominant alleles – Dwarfism (one type), Huntington’s,
Hypercholesterolemia
c. Codominant alleles – Sickle cell
2. Sex-linked Genes (Genes that are located on the X chromosome)
* X linked disorders will always occur more frequently in males
than females
a. Colorblindness
b. Hemophilia
3. Chromosome Disorders (usually caused by nondisjunction during
meiosis)
a. Down Syndrome (extra chromosome, karyotype = 47)
b. Turner’s Syndrome (karyotype = 45, X)
c. Klinefelter’s syndrome (karytype = 47, XXY)
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