Genetics

Question 1

SNP

Answer 1

One nucleotide changed. More common than frameshift and usually not an issue

Question 2

Frameshift mutation w one base pair deleted

Answer 2

Can code for stop codon, protein cut short, probably wont work

Question 3

Frame shift mutation w insertion

Answer 3

Less common. Everything else after it is changed and becomes garbage

Question 4

Type of x linked disorder that’s rare

Answer 4

Dominant

Question 5

Single gene disorders: 3

Answer 5

Dominant, recessive, x linked

Question 6

Aneuploidy

What it is and examples

Answer 6

Nondisjunction. Commonly in miscarriages. Downs- 21. Edward- 18. Patau- 13. Turner: 45 x. Klinefelter: 47 xxy

Question 7

Polyploidy

Answer 7

69 chromosomes, extra set, disaster

Question 8

Locus

Answer 8

Location in genome

Question 9

Allele

Answer 9

One member or a pair of genes

Question 10

Penetrate

Answer 10

Chance that phenotype follows genotype, usually not 100%

Question 11

Haplotype

Answer 11

Alleles on a single chromosome

Question 12

Recombination

Answer 12

Crossover gene rearrangement btw homologous chromosomes

Question 13

When nondisfunction can occur

Answer 13

Meiosis 1. Or meiosis 2 (downs)

Question 14

What happens to chromosomes in turners v klinefelter

Answer 14

Turner- nondisjunction, only one x, from dad not mom

Kline- extra x, 47 total

Question 15

Problems in Turner syndrome

Answer 15

Infertility, cardiac, short height

Question 16

Issues with chromosome translocation between non homologous chromosomes

Answer 16

Fertility issues is or cancer more likely

Question 17

Dominant single gene disorders

Answer 17

Hypercholesterol, Huntington, achondroplasia, Marfan, retinoblastoma, LI fraumeni

Question 18

Single gene recessive disorders

Answer 18

SC anemia, CF, lysosomal storage diseases (tay Sachs, gaucher, niemann pick), phenylketouria, glycogen storage diseases

Question 19

X linked diseases

Answer 19

Recessive, all xs defective. MD and Heme a (factor 8) and heme b (factor 9)

Question 20

Dominant diseases

Passing on to kids if 2 affected parents

Answer 20

1 normal, 1 doubly affected, 2 affected by 1 bad gene

Question 21

Dominant diseases

1 parent normal 1 affected passing on

Answer 21

2 affected 2 normal

1/2 homozygous normal 1/2 Herero affected

Question 22

Achondroplasia

Answer 22

Autosomal dominant

Question 23

Recessive diseases

Need what to be affected

Answer 23

2 carriers or 1 carrier and 1 affected. Results in 1 normal, 2 carriers, 1 homozygous affected

Question 24

What can happen to carriers of recessive diseases

Answer 24

Can gain helpful function sometimes

Question 25

How men become color blind

Answer 25

X inactivation.

Question 26

What happens to kids w 1/2 gene for hemophilia

Answer 26

Daughter partially affected but 1/2 of a good x so ok. Son- clotting time up a lot, no good x

Question 27

What happens to kids of dad w x linked disease

Answer 27

100% daughter will be a carrier, 100% son ok. Wont contribute to son bc not giving him an x

Question 28

What happens to kids of x linked disease mom

Answer 28

Daughter 50% being affected, or a carrier. 1/2 affected son 1/2 normal son

Question 29

What happens in prayer willi and angel man

Answer 29

Methylation. Deleted part from mom (angelman) or dad (prader Willi)