L9-Complex vs Mendelian Disorders

Question 1

What TYPE of disorder complex or mendelian: -rare

-single gene -severe mutations -large phenotypic effect

Answer 1

Mendelian

Question 2

What TYPE of disorder complex or mendelian: -common-many genes-mild mutations -small phenotypic effect

Answer 2

Complex

Question 3

Cleft lip/palate and neural tube defects are examples of ________ traits.

Answer 3

multifactorial

Question 4

Rank who is more likely to get cleft lip and palate…Asians, Native Americans, or African Americans…

Answer 4

Asians then Native Americans, then African Americans

Question 5

What are the %’s out of overall cases??? Cleft Lip and Palate, Isolated Cleft Palate, Isolated Cleft Lip…

Answer 5

Cleft Lip and Palate-50% , Isolated Cleft Palate-30%, Isolated Cleft Lip-20%

Question 6

What is the male to female ratio of Cleft Lip?

Answer 6

2male:1female

Question 7

BIG CONCEPT!!! If the two sexes have a different probability of being affected, the _____ likely sex, if affected, is the most likely sex to produce an affected offspring…SO if _____ are more commonly affected with Cleft Lip, then a ______ with Cleft Lip is most likely to pass it on…

Answer 7

least likely….males more commonly affected….females with cleft lip will most likely pass it on

Question 8

What were the 3 causes of gingival overgrowth?

Answer 8

hereditary, syndromic, and drug induced

Question 9

What is the example for Clinical Heterogeneity ?

Answer 9

Noonan Syndrome…Different phenotypes result from mutations in the same gene

Question 10

________: environmentally induced phenotype that looks like a genetic disorder

Answer 10

PhenoCopy (‘pharm-o-copy’)

Question 11

A disorder affects males twice as often as females. Which has the highest risk of being affected?…Son of affected ______. (male/female)

Answer 11

FEMALE!