Transmission Genetics

Question 1

Mendel

Answer 1

Initially studied the inheritance of genetic material

Question 2

genotype

Answer 2

two allelic forms of a specific gene in a person

Question 3

phenotype

Answer 3

in a person, observed expression of a particular trait

Question 4

Fork-line method

Answer 4

determines potential gametes a person can make

Question 5

Punnet Squares

Answer 5

determines potential offspring two people can make

Question 6

dominant traits

Answer 6

-can make an amino acid chain or protein

Question 7

Huntingtons’s Diease

Answer 7

• dominant
• disruption of brain chemistry which leads to cellular death
• muscular twitching
• emotional disturbances
• chromosome #4 marker

Question 8

Porphyria

Answer 8

• dominant
• can not metabolize RBC breakdown
• causes neurological problems
• sun exposure can cause sun to blister

Question 9

Marfan Syndrome

Answer 9

• dominant
• defect in fibrillin (glycoprotein of connective tissue)
• affects eye lense, long bones, hands, fingers, and aorta

Question 10

neurofibromatosis

Answer 10

• dominant
• benign tumors on the nervous system
• may appear as cafe au lait spots (hyperpigmentation)

Question 11

achondroplasia

Answer 11

• dominant

- dwarfism

Question 12

Recessive traits

Answer 12

-gene does not make aa chain or protein

Question 13

Albinism

Answer 13

• recessive
• lack of tyrosinase which does not allow melanin production
• interfers with another genes protein production

Question 14

PKU- Phenylketonuria

Answer 14

• recessive
• lack of phenylalanine hydroxylase which doesnt allow for phenylalanine to be broken down
• accumulation of phenylalanine which causes brain cell death
• eliminate meat and animal products

Question 15

cystic fibrosis

Answer 15

• recessive
• abnormal chloride channel receptor in cell membrane changes chloride ion concentation in cell
• mucus buildup causes infection and blockages of small tubes
• minimizes signs and symptoms of cholera

Question 16

sickle cell anemia

Answer 16

• recessive
• anemia
• one error in hemoglobins beta chain alters cell’s shape and gives resistance to malaria
• blood cells sickle

Question 17

thalassemias

Answer 17

• recessive
• anemia
• hemoglobins alpha or beta chain length is errored or too few beta chains are produced

Question 18

Tay-Sachs

Answer 18

• recessive
• lysosome storage defects
• 2 enzymes are required for normal cell function
• alpha and beta chains form enzyme hex-a while Hex-B is made up of only B-chains
• lipid (ganglioside) builds up in lysosomes which causes brain cell death
• affords some resistance for TB infection

Question 19

Lactose Intolerace

Answer 19

• recessive

- inability to produce adequate quantities of lactase, the enzyme required to digest milk sugar