Lecture 13

Question 1

What are the modes of inheritance?

Answer 1

autosomal dominant

autosomal recessive

X-linked dominant

X-linked recessive

Y-linked inheritance

mitochondrial

Question 2

Myotonic dystrophy

Answer 2

autosomal dominant disorder

Caused by a triplet repeat expansion in the DMPK gene

Characterized by wasting of the muscles, cataracts, heart conduction defects, endocrine changes, and myotonia.

Question 3

How to get an autosomal recessive disorder?

Answer 3

Both parents must be carriers and you must get the homo alleles

Question 4

How to tell the pedigree is showing an autosomal recessive disorder?

Answer 4

Only shows up in one generation

both genders are impacted equally