X linked diseases

Question 1

What type of genetic disorder is Hemophilia A and how is it inherited

Answer 1

Hemophilia A is an X-linked recessive bleeding disorder.

Question 2

What causes Hemophilia A

Answer 2

Hemophilia A is caused by a deficiency of coagulation factor VIII (FVIII or F8).

Question 2

What are the main characteristics of Hemophilia A?

Answer 2

Hemophilia A is characterized by prolonged bleeding time and easy bruising.

Question 3

Which gene is associated with Hemophilia A?

Answer 3

The F8 gene is associated with Hemophilia A.

Question 3

What has been reported about the mutations of the F8 gene in Hemophilia A?

Answer 3

Mutations of the F8 gene have been reported in Hemophilia A.

Question 4

What specific DNA analysis can be performed for Hemophilia A?

Answer 4

DNA sequence analysis of the FVIII gene can be performed.

Question 4

How is DNA testing used in the context of Hemophilia A?

Answer 4

DNA testing in Hemophilia A involves the identification of mutations in families with severe disease.

Question 5

What is the significance of coagulation factor VIII in Hemophilia A?

Answer 5

Coagulation factor VIII is crucial for blood clotting, and its deficiency leads to the bleeding symptoms seen in Hemophilia A.

Question 5

Why is identifying mutations in the F8 gene important for families with severe Hemophilia A?

Answer 5

Identifying mutations in the F8 gene helps diagnose and manage Hemophilia A in families with severe cases, facilitating appropriate treatment and genetic counseling.

Question 6

What causes Hemophilia B

Answer 6

Hemophilia B is caused by a deficiency of coagulation factor IX.

Question 6

What type of genetic disorder is Hemophilia B and how is it inherited?

Answer 6

Hemophilia B is an X-linked recessive hemostasis disorder.

Question 7

What are the main characteristics of Hemophilia B

Answer 7

Hemophilia B is characterized by prolonged bleeding time and easy bruising.

Question 8

What has been reported about the mutations of the F9 gene in Hemophilia B

Answer 8

Mutations of the F9 gene have been reported in Hemophilia B.

Question 8

Which gene is associated with Hemophilia B?

Answer 8

The F9 gene is associated with Hemophilia B.

Question 9

How is DNA testing used in the context of Hemophilia B?

Answer 9

DNA testing in Hemophilia B involves the identification of mutations in families with severe disease.

Question 9

What specific DNA analysis can be performed for Hemophilia B?

Answer 9

DNA sequence analysis of the FIX gene can be performed.

Question 10

What is the significance of coagulation factor IX in Hemophilia B?

Answer 10

Coagulation factor IX is crucial for blood clotting, and its deficiency leads to the bleeding symptoms seen in Hemophilia B.

Question 10

Why is identifying mutations in the F9 gene important for families with severe Hemophilia B?

Answer 10

Identifying mutations in the F9 gene helps diagnose and manage Hemophilia B in families with severe cases, facilitating appropriate treatment and genetic counseling.

Question 11

What type of genetic disorder is Duchenne Muscular Dystrophy?

Answer 11

Duchenne Muscular Dystrophy is an X-linked recessive disorder.

Question 12

How is Duchenne Muscular Dystrophy characterized?

Answer 12

It is characterized by progressive skeletal muscle wasting.

Question 12

Who first comprehensively reported Duchenne Muscular Dystrophy?

Answer 12

Guillaume Duchenne.

Question 13

What is the primary cause of Duchenne Muscular Dystrophy?

Answer 13

It is caused by a frameshift mutation in the dystrophin gene.

Question 13

What diagnostic methods are used to confirm Duchenne Muscular Dystrophy?

Answer 13

Electromyography and muscle biopsy.

Question 14

How are at-risk females and prenatal cases detected for Duchenne Muscular Dystrophy?

Answer 14

DNA mutation identifications are used to detect at-risk females and for prenatal testing.

Question 14

What is the role of the dystrophin gene in Duchenne Muscular Dystrophy?

Answer 14

Mutations in the dystrophin gene cause Duchenne Muscular Dystrophy

Question 15

What type of genetic disorder is red-green color blindness and how is it inherited?

Answer 15

Red-green color blindness is an X-linked recessive disorder.

Question 15

What does red-green color blindness mean in terms of color perception?

Answer 15

It means that a person cannot distinguish shades of red and green.

Question 16

Are there any serious complications associated with red-green color blindness?

Answer 16

No, there are no serious complications, but affected individuals may not be considered for certain occupations where color recognition is required, such as transportation or the Armed Forces.

Question 17

Why are males more frequently affected by red-green color blindness than females?

Answer 17

Males are more often affected because the gene responsible for red-green color blindness is located on the X chromosome, and males have only one X chromosome.

Question 18

What impact does red-green color blindness have on occupational choices?

Answer 18

Affected individuals may be restricted from certain occupations that require accurate color recognition

Question 19

mention the x linked dominant disorders

Answer 19

1. Vitamin D resistant rickets: X-linked hypophosphatemia 2. Rett syndrome (95% of cases are due to sporadic mutations) 3. Most cases of Alport syndrome 4. Incontinentia pigmenti 5. Giuffrè–Tsukahara syndrome 6. Goltz syndrome 7. X-linked dominant porphyria

Question 19

What is Y-chromosome infertility and what does it affect

Answer 19

Y-chromosome infertility is a condition that affects the production of sperm and causes male infertility.

Question 20

What are the possible types of sperm production issues in men with Y-chromosome infertility?

Answer 20

An affected man's body may produce no mature sperm cells (azoospermia), fewer than the usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly.

Question 20

What is azoospermia?

Answer 20

Azoospermia is a condition in which no mature sperm cells are produced.

Question 21

What is oligospermia and how does it relate to Y-chromosome infertility?

Answer 21

Oligospermia is a condition in which fewer than the usual number of sperm cells are produced. In mild to moderate cases, men with oligospermia may eventually father a child naturally or with assisted reproductive technologies.

Question 21

What impact does Y-chromosome infertility have on the shape and movement of sperm cells?

Answer 21

Sperm cells in men with Y-chromosome infertility may be abnormally shaped or may not move properly.

Question 22

How can men with mild to moderate oligospermia father a child?

Answer 22

Men with mild to moderate oligospermia may eventually father a child naturally or with the help of assisted reproductive technologies.

Question 23

Is Y-chromosome infertility usually inherited?

Answer 23

No, Y-chromosome infertility is usually not inherited

Question 23

What causes Y-chromosome infertility if it is not inherited?

Answer 23

It is mostly caused by new (de novo) deletions on the Y chromosome that occur during the formation of sperm cells in an affected individual's father who is not himself infertile.

Question 24

Do men with Y-chromosome infertility usually have a family history of the disorder?

Answer 24

No, these cases occur in men with no history of the disorder in their family.

Question 24

When do the deletions that cause Y-chromosome infertility typically occur?

Answer 24

The deletions typically occur during the formation of sperm cells in the affected individual's father.

Question 25

What is the significance of de novo deletions in the context of Y-chromosome infertility?

Answer 25

De novo deletions are new genetic mutations that occur spontaneously, rather than being inherited, leading to infertility in men with no family history of the condition.

Question 25

mention the diseases with non mendelian inheritance

Answer 25

1. mitochondrial diseases ~Leber Hereditary optic neuropathy ~Leigh Syndrome 2. complex diseases ~Thrombophilia ~Inherited breast cancer ~Inherited colon cancer ~Acute lymphoblastic lymphoma (ALL