Pedigree--Good way to look at genetic crosses with few offspring, such as human families

Symbols—show phenotype (physical trait) must deduce model and genotypes

Unaffected= normal
Affected = disease
Can be male or females

Male = can be colored or empty

Female = can be either colored or empty

Number of diseases that are inherited;

Phenylketonuria (PKU) = intolerance of phenylalanine (can result in brain damage)
Controlled by one gene on autosome #12 with two alleles
Everyone had 2 autosomes gender doesn’t matter

Allele= contribution to phenotype

D == unaffected (dom)

D == affected (PKU) (rec)

Because gene is on autosome

Disease is recessive to normal
We say that (PKU) is an autosomal recessive disease
This is completely dependent on the parents, but it is rare due to recessive genes

Fred (p) = unaffected

Karen (p) = unaffected
Tom = unaffected
Ellen = affected

1.) Helen must be (dd) because she has (PKU)

2.) Fred and Karen must be (Dd) because the are unaffected but their daughter is affected
3.) Tom is either heterozygous (Dd) or homozygous (DD)

Features of Autosome Recessive (AR) diseases

 Usually rare due to two parents having the disease to pass on
 Has carriers; for example they have (d) but aren’t affected
 Unaffected parents ____can have______ affected children
 This means that (AR) diseases can come as a surprise
 If both parents affected __ all_____ children affected
In solving pedigree problems there are very useful details
o Phenotype and genotype
o Phenotype is affected or unaffected
o Genotype is dd
Autosomal Dominant
Marfan syndrome---tall with long arms and weak aorta (often fatal) issue with
connective tissue. Under heavy exercise the aorta can burst.

Controlled by one gene on autosome #15

Allele contribution

M== Marfan syndrome (dom)

m== unaffected (rec)

simple dominance

Sex Linked Recessive (SLR)

Red green color blindness
One gene on the X chromosome

Allele contribution

XB normal color vision (dom)

Xb Red green color blind (rec)

Y. none