Chapter 11 Complex Inheritance Section 11-1

Bio30 NWRC

Section 11-1 Recessive Genetic Disorders
• Two copies of the gene must be mutated for a person to be affected by a recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder

Autosomal Recessive Disorders
• Both parents are carriers

Autosomal Recessive Disorders
• One parent is a carrier – one is normal

Autosomal Recessive Disorders
• One parent has condition – one is normal

Recessive Disorders
• Cystic fibrosis (CF) is caused by a defect in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene makes a protein that controls the movement of salt and water in and out of the cells in your body. In people with CF, the gene does not work effectively. This causes the thick, sticky mucus and very salty sweat that are the main features of CF. Each of us inherits two CFTR genes, one from each parent. Children who inherit an abnormal CFTR gene from each parent will have CF. Children who inherit an abnormal CFTR gene from one parent and a normal CFTR gene from the other parent will not have CF. They will be CF carriers.

• •

Recessive Disorders
• AlbinismThe word "albinism"
refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited genes that do not make the usual amounts of a pigment called melanin. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye colour for their particular ethnic backgrounds.

Recessive Disorders- galactosemia

Recessive Disorders- Tay Sachs Disease
• • Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord (the central nervous system). The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, mental retardation, and paralysis.

Dominant Genetic Disorders
• Only one mutated copy of the gene is needed for a person to be affected by an dominant disorder. Each affected person usually has one affected parent. There is a 50% chance that a child will inherit the mutated gene. • There are no carriers

Dominant Genetic Disorders
• One parent has condition and the other does not

Dominant Genetic Disorders
• Both parents have a condition

Pedigree Charts

Assessment
1.

2.
• Huntingtons (nervous system disorder)and Achondoplasia (dwarfism) are both Dominant • The affected parent has a
single defective gene (D), which dominates its normal counterpart (n). Each child has a 50 percent risk of inheriting the faulty gene and the disorder.

3.
• They cannot since albinos would only have recessive alleles. • Here’s an albino squirrel

4.

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