Genetic Disorders

Question 1

What occurs in Autosomal Dominant?

Answer 1

One copy of mutated gene from one parent can cause the genetic condition

Question 2

What is the term for when one copy of a mutated gene from one parent can cause the genetic condition?

Answer 2

Autosomal Dominant

Question 3

What occurs in Autosomal Recessive

Answer 3

Two copies of the faulty gene are required to cause the disease? One from each parent

Question 4

What is the term for when two copies of the faulty gene are required to cause the disease? one from each parent

Answer 4

Autosomal Recessive

Question 5

What is heterozygote or a carrier?

Answer 5

A parent who has one faulty gene copy and one normal gene copy

Question 6

What is the term for when a parent who has one faulty gene copy and one normal gene copy?

Answer 6

Heterozygote / Carrier

Question 7

Where is the faulty gene located?

Answer 7

X chromosome

Question 8

What is located on the X chromome?

Answer 8

Faulty Gene

Question 9

What is considered a heterozygote carrier?

Answer 9

When a female has a faulty gene on one of her two X chromosomes and usually does not show any symptoms

Question 10

What is the term for when a female has a faulty gene on one of her two X chromosomes?

Answer 10

Heterozygote carrier

Question 11

What is considered a hemizygous?

Answer 11

When a male has a faulty gene on his single X chromosome and will show symptoms

Question 12

Who has XX

Answer 12

Female

Question 13

Who has XY

Answer 13

Male

Question 14

What is the term for when a male has a faulty gene on his single X chromosome and will show symptoms?

Answer 14

Hemizygous

Question 15

What is inherited as a recessive trait on the X chromosome?

Answer 15

Colour Blindness

Question 16

People with Deuteranomaly / Deuteranopia and Protanomaly / Protanopia are known as?

Answer 16

Red-Green colour blind

Question 17

What gender is more commonly affected with colour blindness?

Answer 17

Males

Question 18

What is the term for when the gene is inherited from the mother?

Answer 18

Mitochondrial Inheritance

Question 19

What is Genotype?

Answer 19

Genetic makeup of an organism

RR, Rr. rr

Question 20

What is Phenotype?

Answer 20

Physical traits that appear in an individual ; what an organism look like

Question 21

What are the characteristics of Retinitis PIgmentosa?

Answer 21

Degeneration of RPE
Pale optic Disc
Narrowing or Arteries
Loss of peripheral vision

Question 22

What are the characteristics of Leber’s Hereditary Optic Neuropathy?

Answer 22

Central vision loss
Swollen optic nerve
Patients in 20s or 30s
Mitochondrial Inheritance

Question 23

What type of Genetic Inheritance is Retinitis PIgmentosa?

Answer 23

Autosomal Dominant / Recessive

X linked

Question 24

What type of Genetic Inheritance is Leber’s Hereditary Optic Neuropathy?

Answer 24

Mitochondrial

Question 25

What is used to predict the changes of genetic diseases in children for parents with an increased risk?

Answer 25

Punnett Squares

Question 26

Traits that are determined by alleles carried on the X chromosome is are referred to as what?

Answer 26

X linked

Question 27

How many X linked alleles do females have?

Answer 27

2

Question 28

how many X linked alleles do males have?

Answer 28

1

Question 29

T / F :

Most X linked traits in humans are recessive

Answer 29

T

Question 30

What type of inheritance is Red / Green colour defiency?

Answer 30

X linked recessive inheritance

Question 31

What type of inheritance is Retinoblastoma?

Answer 31

Autosomal Dominant Inheritance, although the majority of cases are not hereditary

Question 32

What type of inheritance is Leber hereditary optic neuropathy?

Answer 32

Mitochondrial Inheritance

Question 33

What type of inheritance is Glaucoma?

Answer 33

Multigenetic Inheritance

Question 34

What type of inheritance is Tritanopia?

Answer 34

Autosomal dominant

Question 35

What type of inheritance is Retinitis Pigmentosa?

Answer 35

Autosomal dominant, recessive or X linked