BS: Genome

Question 1

Distance across double helix

Answer 1

2 nm

Question 2

Number of times DNA is wrapped around a set of histones

Answer 2

2.5 times

Question 3

Chromosome location code

Answer 3

(chromosome number)(Long [q] or short arm [p]) (region) (band) . (sub-band)

Question 4

Central Dogma of Biology

Answer 4

DNA is used to make RNA which is used to make proteins and it is these proteins that run the body

Question 5

Karoytpe

Answer 5

Collection of autosomes and sex chromosomes possessed by an individual

Question 6

Karyogram

Answer 6

Quantitative and qualitative measurement of karyotype. Most commonly assessed using fluorescent tagged probes for chromosome-specific sequences of DNA

Question 7

How are chromosomes numbered

Answer 7

Numbered according to length with 1 being the longest and 22 the shortest (23 is sex-chromosomes which are excluded)

Question 8

mtDNA inheritance patterns

Answer 8

mtDNA inherited only from the mother

Question 9

mtDNA (description)

Answer 9

Circular DNA found in mitochondria, multiple copies found within a single cell

Question 10

Nucleoids

Answer 10

Formed by mtDNA

Question 11

mtDNA size

Answer 11

Small, only about 16 and 1/2 thousand base pairs; only encodes 13 proteins

Question 12

What does mtDNA encode

Answer 12

Proteins of oxidative phosphorylation (Electron transport chain)

Question 13

Lethel alleles

Answer 13

Homozygosity for disease alleles results in embryonic lethality

Question 14

Pleiotropy

Answer 14

A single gene affects multiple traits

Question 15

Expressivity

Answer 15

Quantitative manifestation of a phenotype or disease differs from person to person

Question 16

Penetrance

Answer 16

The ability of a disease process to be expressed, particularly in the case of modifying loci that may correct the disease process or prevent expression of the disease allele

Question 17

Typical X-linked inheritance pattern

Answer 17

Mothers to sons

Question 18

Cystic Fibrosis

Answer 18

Autosomal recessive disorder that effects Chloride channels, mutation on chromosome 7

Question 19

Sickle Cell anemia

Answer 19

Autosomal recessive disorder that effects hemoglobin shape

Question 20

Lysosomal storage disease

Answer 20

AKA Tay Sachs

Autosomal recessive disorder that effects lysosomal enzymes

Question 21

Xeroderma Pigmentosum

Answer 21

Autosomal recessive disorder that effects DNA repair enzyme

Question 22

Glycogen storage disease

Answer 22

AKA Cori’s disease

Autosomal recessive disorder that effect glycogenolysis enzymes

Question 23

Albinism

Answer 23

Autosomal recessive disorder that effect tyrosinase, a melanin biosynthesis enzyme

Question 24

Huntington’s disease

Answer 24

Autosomal dominant disorder that effects huntington’s protein

Question 25

Familial hypercholesterolemia

Answer 25

Autosomal dominant disorder that effects LDL receptor

Question 26

Marfan’s disease

Answer 26

Autosomal dominant disorder that effects fibrillin

Question 27

Neurofibromatosis

Answer 27

Autosomal dominant disorder that effects NF1 leading to dysregulation of ras

Question 28

Polycystic Kidney Disease

Answer 28

Autosomal dominate disorder