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Flashcards in Biochem12 Deck (17):
1

  

Autosomal Dominant

2

Autosomal Recessive

3

X-linked Recessive

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X-linked Dominant

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Mitochondrial Inheritance

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Often due to structual genes. 

Many generations, both male and female, affected

Autosomal Dominant

 

Often pleiotropic.  Family history crucial to diagnosis

7

25% of offspring from 2 carrier parents are affected.

 

Usually seen in only 1 generation

Autosomal Recessive

8

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

Enzymes

9

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

True

Patients often present in childhood

10

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

X-linked Recessive

11

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

Homozygous

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.

X-linked Dominant

13

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

Hypophosphatemic Rickets

14

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

Mitochondrial Inheritance

15

Mitochondrial Inheritance is often due to failures in what?

Oxidative phosphorylation

16

How do Mitochondrial myophathies most often present?

Myopathy and CNS disease

17

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

"Ragged Red Fibers"