Human Genetics - Biology Department
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Transcript Human Genetics - Biology Department
BSC 2010L
Humans
Haploid # of
chromosomes:
23
Diploid #: 46
Remember:
Have 23 pairs
1 of each
pair came
from mom
1 of each
pair came
from dad
Each pair of chromosomes is referred to as
HOMOLOGOUS CHROMOSOMES
Have the same genes
For each gene there can be 2 alleles (different
forms)
Look at picture below:
B = brown eyes
b = blue eyes
Brown is dominant so this person’s phenotype would be
brown eyes
Incomplete Dominance
Form of inheritance where heterozygous alleles
are both expressed, combined phenotype
Example: a plant with white flowers and plant with
red flowers has offspring with pink flowers
Codominant
Both alleles are expressed
Example: Blood types in humans
If a person has the A allele and the B allele, then both
A and B are expressed on the surface of the red
blood cell
Some Dominant Traits in Humans
Widow’s peak
Unattached earlobes
Freckles
Down Syndrome (Trisomy 21)
3 #21 chromosomes
Sex Chromosomal Abnormalities
Turner Syndrome – XO
Never reaches puberty
Poly-X Syndrome (XXX)
Tend to have learning disabilities
Klinefelter Syndrome (XXY)
Testes underdeveloped, long limbs, poor muscle
growth
Jacob Syndrome (XYY)
Taller, speech and reading problems
Genes located on the sex
chromosomes (23rd pair in
humans)
Examples:
Color-blindness
Hemophilia
Males only need 1 gene on X
chromosome to have trait –
look at boy on far right
Method that allows tracking of a genetic
disorder within a family
Circles – Females
Squares – Males
Affected individuals – filled in
Carriers – half filled in
http://www.sciencegeek.net/Biology/review/Sem1Review.htm
Patterns of inheritance
Autosomal Dominant – many children affected
Autosomal Recessive – few children affected
X-linked recessive – mostly males affected
Patterns of inheritance
Autosomal Dominant – many children affected
Autosomal Recessive – few children affected
X-linked recessive – mostly males affected
Patterns of inheritance
Autosomal Dominant – many children affected
Autosomal Recessive – few children affected
X-linked recessive – mostly males affected