Genomics and Human Variation

Question 1

Single Copy Genes

Answer 1

Sequence that codes for protein

Ex: receptors, enzymes, hormones, etc

Question 2

Multugene families

Classic and Gene superfamilies

Answer 2

• Classic genes families: Multiple genes, high degree homology (similar)
• Gene superfamilies: Multiple genes with similar functions, limited homology

Question 3

Extragenic DNA

Answer 3

Not transcriptionally active

Role in regulation

Question 4

Types of DNA variations

Answer 4

1) SNP- single nucleotide polymorphism (pt mutation)
- usually don’t cause disease

2) SSR- Simple sequence repeat (tandem repeat 2-4 BP)
- Good for paternity and forensic tests

3) VNTR (Short tandem repeat)- Repeats few to many times (V=varies)

4) LCR (Low copy repeat)- May be very large, few but long
- Can cause mispairing in meiosis and mitosis

Question 5

LINE and SINES

Answer 5

LINES: Make reverse transcriptase (Small ship)

SINES: Use transcriptase to it back into the genome (carrier ship)

Question 6

Pseudogenes

Answer 6

Look like real genes but don’t function as such (gene turned off)

Question 7

Metacentric chromosome

Submetacentric chromosome

Acrocentric chromosome

Answer 7

Metacentric chromosome: p=q in length of chromosome 1

Submetacentric chromosome: p

Question 8

Barr Body

Answer 8

• Inactivation of one X-Chromosomes in female
• Random, could be inactivation of mom or dads X
• XIST gene involved in inactivation
• Causes this X chromosome condensation to heterochromatin

Question 9

Locus of gene

Answer 9

Location on a chromosome