Genetic_Diseases_Flashcards

Question 1

Approximately how many genetic diseases are there worldwide?

Answer 1

About 6,000 genetic diseases.

Question 2

What is the difference between congenital and acquired diseases?

Answer 2

Congenital diseases are present at birth; acquired diseases develop later due to external factors.

Question 3

What causes genetic diseases?

Answer 3

Dysfunction of one or more genes.

Question 4

What are monogenic or monofactorial diseases?

Answer 4

Diseases caused by a single gene dysfunction.

Question 5

Are all genetic diseases inherited?

Answer 5

No, some result from somatic mutations and are not passed down.

Question 6

Give an example of a genetic disease that is not inherited.

Answer 6

Most cancers resulting from mutations in somatic cells.

Question 7

What are the three main types of genetic diseases discussed?

Answer 7

Mendelian, mitochondrial, and multifactorial diseases.

Question 8

What characterizes Mendelian diseases?

Answer 8

They follow Mendel’s laws and are caused by single gene mutations.

Question 9

Name the four modes of inheritance in Mendelian diseases.

Answer 9

Autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive.

Question 10

How are mitochondrial diseases inherited?

Answer 10

Exclusively from the mother via mitochondrial DNA.

Question 11

What causes mitochondrial diseases?

Answer 11

Dysfunction in the mitochondrial genome leading to energy production failure.

Question 12

List some common symptoms of mitochondrial diseases.

Answer 12

Gastrointestinal issues, diabetes, neurological problems, movement disorders.

Question 13

How common are mitochondrial diseases?

Answer 13

They affect approximately 1 in 5,000 individuals.

Question 14

What characterizes multifactorial diseases?

Answer 14

They result from multiple genes and environmental factors.

Question 15

Do multifactorial diseases follow clear Mendelian inheritance patterns?

Answer 15

No, they do not have clear risk probabilities like Mendelian diseases.

Question 16

Give examples of multifactorial diseases.

Answer 16

Schizophrenia, diabetes, asthma, hypertension, Alzheimer’s disease, dandruff.

Question 17

What is the purpose of genetic family trees?

Answer 17

To visualize family history and understand phenotypic transmission patterns.

Question 18

In autosomal dominant inheritance, how many mutated alleles cause disease?

Answer 18

One mutated allele is sufficient.

Question 19

What is the chance an affected individual will transmit an autosomal dominant disease to a child?

Answer 19

50% chance for each child.

Question 20

Give an example of an autosomal dominant disease.

Answer 20

MODY (Maturity Onset Diabetes of the Young).

Question 21

In autosomal recessive inheritance, how many mutated alleles are needed for disease manifestation?

Answer 21

Two mutated alleles (one from each parent).

Question 22

Name examples of autosomal recessive diseases.

Answer 22

Sickle cell disease, cystic fibrosis, Tay-Sachs disease.

Question 23

Where is the mutated gene located in X-linked diseases?

Answer 23

On the X chromosome.

Question 24

In X-linked dominant inheritance, is one mutated allele enough to cause disease?

Answer 24

Yes, one mutated allele on the X chromosome is sufficient.

Question 25

Provide examples of X-linked dominant diseases.

Answer 25

Vitamin D resistant rickets, Rett syndrome.

Question 26

In X-linked recessive inheritance, why are males more affected?

Answer 26

Males have one X chromosome; a single mutated allele causes disease.

Question 27

Can fathers pass X-linked recessive diseases to their sons?

Answer 27

No, fathers cannot transmit X-linked genes to sons.

Question 28

Name examples of X-linked recessive diseases.

Answer 28

Red-green color blindness, hemophilia A and B.

Question 29

What is heterozygote advantage?

Answer 29

When carriers of one mutated allele have a survival benefit.

Question 30

How does sickle cell trait provide a heterozygote advantage?

Answer 30

Carriers are more resistant to malaria than non-carriers.

Question 31

What is OMIM?

Answer 31

Online Mendelian Inheritance in Man®, a database of human genes and genetic phenotypes.

Question 32

What focus does OMIM have?

Answer 32

The relationship between genotype and phenotype.

Question 33

Why are genetic family trees important in genetics?

Answer 33

They help trace inheritance patterns and predict disease risks.

Question 34

What is the inheritance pattern when a mother carries an X-linked dominant mutation?

Answer 34

Both sons and daughters have a 50% chance of being affected.

Question 35

What is the inheritance pattern when a father carries an X-linked dominant mutation?

Answer 35

All daughters are affected; sons are not affected.