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Molecular Diagnostics > X linked diseases > Flashcards

X linked diseases Flashcards

1
Q

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

A

Hemophilia A is an X-linked recessive bleeding disorder.

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2
Q

What causes Hemophilia A

A

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

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2
Q

What are the main characteristics of Hemophilia A?

A

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

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3
Q

Which gene is associated with Hemophilia A?

A

The F8 gene is associated with Hemophilia A.

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3
Q

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

A

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

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4
Q

What specific DNA analysis can be performed for Hemophilia A?

A

DNA sequence analysis of the FVIII gene can be performed.

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4
Q

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

A

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

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5
Q

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

A

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

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5
Q

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

A

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

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6
Q

What causes Hemophilia B

A

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

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6
Q

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

A

Hemophilia B is an X-linked recessive hemostasis disorder.

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7
Q

What are the main characteristics of Hemophilia B

A

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

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8
Q

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

A

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

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8
Q

Which gene is associated with Hemophilia B?

A

The F9 gene is associated with Hemophilia B.

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9
Q

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

A

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

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9
Q

What specific DNA analysis can be performed for Hemophilia B?

A

DNA sequence analysis of the FIX gene can be performed.

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10
Q

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

A

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

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10
Q

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

A

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

11
Q

What type of genetic disorder is Duchenne Muscular Dystrophy?

A

Duchenne Muscular Dystrophy is an X-linked recessive disorder.

12
Q

How is Duchenne Muscular Dystrophy characterized?

A

It is characterized by progressive skeletal muscle wasting.

12
Q

Who first comprehensively reported Duchenne Muscular Dystrophy?

A

Guillaume Duchenne.

13
Q

What is the primary cause of Duchenne Muscular Dystrophy?

A

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

13
Q

What diagnostic methods are used to confirm Duchenne Muscular Dystrophy?

A

Electromyography and muscle biopsy.

14
Q

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

A

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

14
Q

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

A

Mutations in the dystrophin gene cause Duchenne Muscular Dystrophy

15
Q

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

A

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

15
Q

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

A

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

16
Q

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

A

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.

17
Q

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

A

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.

18
Q

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

A

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

19
Q

mention the x linked dominant disorders

A
  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
19
Q

What is Y-chromosome infertility and what does it affect

A

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

20
Q

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

A

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.

20
Q

What is azoospermia?

A

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

21
Q

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

A

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.

21
Q

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

A

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

22
Q

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

A

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

23
Q

Is Y-chromosome infertility usually inherited?

A

No, Y-chromosome infertility is usually not inherited

23
Q

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

A

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.

24
Q

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

A

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

24
Q

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

A

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

25
Q

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

A

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.

25
Q

mention the diseases with non mendelian inheritance

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

Molecular Diagnostics (10 decks)

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