Non-Mendelian Inheritance (Genetic Basis of Complex Inheritance)

Question 1

<p>What is complex inheritance?</p>

Answer 1

<p>Inheritance that does not follow mendelian inheritance</p>

Question 2

<p>What are some inheritance patterns of complex inheritance?</p>

Answer 2

<p>Incomplete penetrance</p>

<p>Genomic imprinting</p>

<p>Extranuclear inheritance</p>

<p>Anticipation</p>

Question 3

<p>What is incomplete penetrance?</p>

Answer 3

<p>People have a mutation but do not develop the symptoms of the disorder</p>

Question 4

<p>What is genomic imprinting?</p>

Answer 4

<p>Genes expressed only from one chromosome, parent of origin dependent</p>

<p>(maternal or paternal gene is switched of)</p>

Question 5

<p>What is extranuclear inheritance?</p>

Answer 5

<p>Transmission of genes that occur outside the nucleus, such as the mitochondria</p>

Question 6

<p>What is anticipation?</p>

Answer 6

<p>Symptoms of a genetic disorder become apparent at an early age</p>

Question 7

<p>What is penetrance?</p>

Answer 7

<p>The frequency with which a trait is manifested by individuals carrying the gene</p>

Question 8

<p>What gene is usually responsible for cystic fibrosis?</p>

Answer 8

<p>CFTR</p>

Question 9

<p>What are genetic modifiers?</p>

Answer 9

<p>Genes that have small quantative effects on the level of expression of another gene</p>

Question 10

<p>What is polymorphism?</p>

Answer 10

<p>Genetic variants of a gene</p>

Question 11

<p>What is also important for the onset of genetic diseases?</p>

Answer 11

<p>Environmental factors</p>

Question 12

<p>What are epigenetic modifications?</p>

Answer 12

<p>Heritable changes in gene function that cannot be explained by changes in DNA sequences</p>

Question 13

<p>What is uniparental disomy?</p>

Answer 13

<p>2 copies of a chromosome come from the same parent instead of 1 from each</p>

Question 14

<p>What are the 2 kinds of uniparental diploidy?</p>

Answer 14

<p>Gynotypic (2 maternal genomes)</p>

<p>Androgenic (2 paternal genomes)</p>

Question 15

<p>What is gynogenic uniparental diploidy?</p>

Answer 15

<p>2 maternal genomes:</p>

<p></p>

<p>Mass of embryo</p>

<p>Ovarian teratoma</p>

Question 16

<p>What is andogenic uniparental diploidy?</p>

Answer 16

<p>2 paternal genomes:</p>

<p></p>

<p>Mass of placenta</p>

<p>Hydatidiform mole</p>

Question 17

<p>What are examples of imprinting disorders?</p>

Answer 17

<p>Angelman syndrome</p>

<p>Prader-Willi syndrome</p>

Question 18

<p>Where is mitochondiral inheritance from?</p>

Answer 18

<p>Maternal</p>

Question 19

<p>Which has more mutations out of the nuclear genome and the mitochondria?</p>

Answer 19

<p>Mitochondria due to:</p>

<p></p>

<p>Lack of DNA repair systems</p>

<p>Lack of protective proteins such as histones</p>

<p>Damaged by reactive oxygen species</p>

Question 20

<p>What is polyploidy?</p>

Answer 20

<p>Cell having more than 2 pairs of chromosomes</p>

Question 21

<p>What is homoplasmy?</p>

Answer 21

<p>Cell whose mitochondrial DNA is all identical</p>

Question 22

<p>What is heteroplasmy?</p>

Answer 22

<p>Cells whose mitochondrial DNA is not all identical</p>

Question 23

<p>What are the 3 major myopathies?</p>

Answer 23

<p>Myoclonic epolepsy</p>

<p>Mitochondrial myopathy</p>

<p>Chronic progressive external ophthalmoplegia</p>

Question 24

<p>What does mitochondrial disease affect?</p>

Answer 24

<p>Tissues with high metabolic demand</p>

Question 25

<p>How can a baby have 3 genetic parents?</p>

Answer 25

<p>Sperm from dad</p>

<p>Egg from a mum</p>

<p>Mitochondrial DNA from another mum</p>

Question 26

<p>What are examples of anticipation diseases?</p>

Answer 26

<p>Triple repeat diseases:</p>

<p></p>

<p>Huntington's disease</p>

<p>Myotonic dystrophy</p>

<p>Fragile X syndrome</p>