Exam 1

Question 1

Compare and contrasts terms constitutional and congenital

Answer 1

Both present at birth, constitutional is on cellular level while congenital is phenotypic

Question 2

what is an obligate carrier

Answer 2

parents of a child who has a autosomal recessive conditioon

Question 3

what are mendel’s 3 principles

Answer 3

unit inheritance, segregation and independent assortment

Question 4

define unit inheritance

Answer 4

parental phenotypes do not blend

Question 5

define segregation

Answer 5

genes exisst in pairs and only one copy of each pair is transmitted –> offspring

Question 6

define independent assortment

Answer 6

genes at different loci are transmitted independent from one another

Question 7

what are the trademarks of autosomal dominant inheritance

Answer 7

vertical transfer, male to male transfer, variable expressivity and incomplete penetrance

Question 8

Marfan syndrome is an example of what kind of inheritance

Answer 8

autosomal dominant

Question 9

Achondroplaysia is an example of what kind of inheritance

Answer 9

autosomal dominant

Question 10

What type(s) of inheritance may result in conditions skipping generations

Answer 10

autosomal recessive–you don’t always know who in the family was a carrier

Question 11

what are the trademarks of autosomal recessive inheritance

Answer 11

Often consanguinity, ethnic predisposition, usually one generation affected

Question 12

cystic fibrosis and sickle cell anemia are both examples of __ __ inheritance

Answer 12

autosomal recessive

Question 13

Why do females show mild expression of x-linked recessive mutations

Answer 13

skewed lyonization

Question 14

Give two examples of x-linked recessive disorders

Answer 14

hemophilia and duchenne’s muscular dystrophy

Question 15

x-linked recessive disorders are more common in which gendder

Answer 15

men

Question 16

x-linked dominant disorders are more common in which gender

Answer 16

females

Question 17

what kind of inheritance do mitochondrial genetics follow

Answer 17

autosomal recessive

Question 18

define heteroplasmy

Answer 18

mix of normal and abnormal mtDNA

Question 19

define homoplasmy

Answer 19

uniform mtDNA (abnormal or normal)

Question 20

how is mtDNA assorted in daughter cells

Answer 20

randomly

Question 21

what tissues are more likely to be affected by mtDNA and why

Answer 21

muscle and brain–they have higher energy requirements and therefore more mt in them

Question 22

name 4 disorders involving trinucleotide repeats

Answer 22

Huntington’s, Fragile X, Mytotonic muscular atrophy and spinobulbar muscular atrophy

Question 23

What category of disease do Bloom’s and Werner’s syndromes fall under

Answer 23

helicases

Question 24

what is heterodisomy the result of

Answer 24

nondisjuntion at meiosis I

Question 25

what is isodisomy the result of

Answer 25

nondisjunction at meiosis II

Question 26

what are the two types of triploidy

Answer 26

diandric and digynic

Question 27

what is uniparental disomy

Answer 27

all genetic material is inherited from one parent

Question 28

give two examples of uniparental disomy

Answer 28

Russel Silver syndrome and CF

Question 29

what is multifactorial inheritance

Answer 29

contribution of genes + environment causing disease or trait

Question 30

Give two trademarks of MFI

Answer 30

gender preference, lack of clear mendelian inheritance pattern, lack clear biochemical defects due to 1 abnormal gene, variable expressivity/penatrance