Biochem12

Question 1

Answer 1

Autosomal Dominant

Question 2

Answer 2

Autosomal Recessive

Question 3

Answer 3

X-linked Recessive

Question 4

Answer 4

X-linked Dominant

Question 5

Answer 5

Mitochondrial Inheritance

Question 6

Often due to structual genes.

Many generations, both male and female, affected

Answer 6

Autosomal Dominant

Often pleiotropic. Family history crucial to diagnosis

Question 7

25% of offspring from 2 carrier parents are affected.

Usually seen in only 1 generation

Answer 7

Autosomal Recessive

Question 8

Autosomal recessive disorders are often due to a deficiency in what?

Answer 8

Enzymes

Question 9

T/F - Autosomal recessive disorders are commonly more severe than autosomal dominant disorders.

Answer 9

True

Patients often present in childhood

Question 10

Sons of heterozygous mothers have a 50% chance of being affected. No male-male transmission

Answer 10

X-linked Recessive

Question 11

In X-linked recessive disorders, females usually must be what to be affected?

Answer 11

Homozygous

Question 12

Transmitte through both parents. Either male or female offspring of the affected mother may be affected, wheras ALL female offspring of the affected father are affected.

Answer 12

X-linked Dominant

Question 13

What X-linked dominant disorder is characterized by an INcrease wasting of Phosphate at the PROMIXAL tubule?

Answer 13

Hypophosphatemic Rickets

Question 14

Transmitted only through mother. ALl offspring of affected females may show signs of disease.

Answer 14

Mitochondrial Inheritance

Question 15

Mitochondrial Inheritance is often due to failures in what?

Answer 15

Oxidative phosphorylation

Question 16

How do Mitochondrial myophathies most often present?

Answer 16

Myopathy and CNS disease

Question 17

What is seen in a muscle biopsy in a patient with mitochondrial myopathy?

Answer 17

“Ragged Red Fibers”