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Page 1: Inherited Diseases Autosomal Recessive and Autosomal Dominant Patterns of Inheritance

Inherited Diseases

Autosomal Recessive and Autosomal Dominant Patterns of Inheritance

Page 2: Inherited Diseases Autosomal Recessive and Autosomal Dominant Patterns of Inheritance

Autosomal Recessive

Is caused by a recessive allele bb.Relatively RareCommon in ethnic groups

Page 3: Inherited Diseases Autosomal Recessive and Autosomal Dominant Patterns of Inheritance

Cystic Fibrosis

Most common among white AmericansApproximately 1 and 20 white

Americans are carriers.1 in 2000 babies are born with CFIt is due to a defective protein in the

plasma membrane, it results in the formation & accumulation of thick mucus in the lungs and digestive tract.

Page 4: Inherited Diseases Autosomal Recessive and Autosomal Dominant Patterns of Inheritance

Tay-Sachs

Affects the Central Nervous SystemResults in the absence of an enzyme

that breaks down lipids in the CNS.Common in Amish, and Ashkenzic

Jews.Babies only live to around the age 51 in 27 babies are born with the

disease.

Page 5: Inherited Diseases Autosomal Recessive and Autosomal Dominant Patterns of Inheritance

PKU- Phenylketonuria

Results in the absence of enzyme that converts phenylalanine into tryosine. Therefore it accumulates in the body and results in damage to the CNS.

Most common in Sweden and Norway.Causes mental retardation.Can be controlled by removing foods

that contain phenylalanine in their diets.

Page 6: Inherited Diseases Autosomal Recessive and Autosomal Dominant Patterns of Inheritance

Autosomal Dominance

Results from a dominant allele. Therefore, if the individual has at least 1 allele, the trait will be present.

Most dominant diseases are rare.

Page 7: Inherited Diseases Autosomal Recessive and Autosomal Dominant Patterns of Inheritance

Huntington’s Disease

Results in the breakdown of certain areas of the brain.

Lethalonset is around age 30-50normally pass down allele before

they realize they have the trait.

Page 8: Inherited Diseases Autosomal Recessive and Autosomal Dominant Patterns of Inheritance

Simple Dominant Traits

Tongue RollingHapsburg lip (large

lower lip)Hanging earlobeshitchhiker’s thumbalmond shaped eyes thick lips long eye lashes

Presence of hair in middle section of the fingers

close set eyes (distance between the eyes)

Hair texture (curly is dominant)

Polydactyl- 6 fingers. Rare but dominant.


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