Genetic Disorders Flashcards
What occurs in Autosomal Dominant?
One copy of mutated gene from one parent can cause the genetic condition
What is the term for when one copy of a mutated gene from one parent can cause the genetic condition?
Autosomal Dominant
What occurs in Autosomal Recessive
Two copies of the faulty gene are required to cause the disease? One from each parent
What is the term for when two copies of the faulty gene are required to cause the disease? one from each parent
Autosomal Recessive
What is heterozygote or a carrier?
A parent who has one faulty gene copy and one normal gene copy
What is the term for when a parent who has one faulty gene copy and one normal gene copy?
Heterozygote / Carrier
Where is the faulty gene located?
X chromosome
What is located on the X chromome?
Faulty Gene
What is considered a heterozygote carrier?
When a female has a faulty gene on one of her two X chromosomes and usually does not show any symptoms
What is the term for when a female has a faulty gene on one of her two X chromosomes?
Heterozygote carrier
What is considered a hemizygous?
When a male has a faulty gene on his single X chromosome and will show symptoms
Who has XX
Female
Who has XY
Male
What is the term for when a male has a faulty gene on his single X chromosome and will show symptoms?
Hemizygous
What is inherited as a recessive trait on the X chromosome?
Colour Blindness
People with Deuteranomaly / Deuteranopia and Protanomaly / Protanopia are known as?
Red-Green colour blind
What gender is more commonly affected with colour blindness?
Males
What is the term for when the gene is inherited from the mother?
Mitochondrial Inheritance
What is Genotype?
Genetic makeup of an organism
RR, Rr. rr
What is Phenotype?
Physical traits that appear in an individual ; what an organism look like
What are the characteristics of Retinitis PIgmentosa?
Degeneration of RPE
Pale optic Disc
Narrowing or Arteries
Loss of peripheral vision
What are the characteristics of Leber’s Hereditary Optic Neuropathy?
Central vision loss
Swollen optic nerve
Patients in 20s or 30s
Mitochondrial Inheritance
What type of Genetic Inheritance is Retinitis PIgmentosa?
Autosomal Dominant / Recessive
X linked
What type of Genetic Inheritance is Leber’s Hereditary Optic Neuropathy?
Mitochondrial
What is used to predict the changes of genetic diseases in children for parents with an increased risk?
Punnett Squares
Traits that are determined by alleles carried on the X chromosome is are referred to as what?
X linked
How many X linked alleles do females have?
2
how many X linked alleles do males have?
1
T / F :
Most X linked traits in humans are recessive
T
What type of inheritance is Red / Green colour defiency?
X linked recessive inheritance
What type of inheritance is Retinoblastoma?
Autosomal Dominant Inheritance, although the majority of cases are not hereditary
What type of inheritance is Leber hereditary optic neuropathy?
Mitochondrial Inheritance
What type of inheritance is Glaucoma?
Multigenetic Inheritance
What type of inheritance is Tritanopia?
Autosomal dominant
What type of inheritance is Retinitis Pigmentosa?
Autosomal dominant, recessive or X linked
