Inheritance of disease L5

Question 1

when are chromosomes best scene

Answer 1

metaphase

Question 2

female=

Answer 2

XX

Question 3

male=

Answer 3

XY

Question 4

down’s syndrome=

Answer 4

extra 21

Question 5

germ cells are

Answer 5

haploid

Question 6

in meiosis what is the overall change

Answer 6

cell go from diploid to haploid

Question 7

have many divisions in meiosis

Answer 7

2

Question 8

how many cells produced in meiosis

Answer 8

4 haploid cells

Question 9

what happens in meiosis 1

Answer 9

pairs of homologous chromosomes form tetrads

members of each homologous pair separate –> 2 haploid cells

Question 10

what happens in meiosis 2

Answer 10

2 cells divide like in mitosis and form 4 genetically different haploid cells

Question 11

what can happens in meiosis 1 to create genetic diversity

Answer 11

recombination

Question 12

what is recombination

Answer 12

crossing over of chromatid arms within the tetrad to produce a new combination of genes

Question 13

somatic gene mutation

Answer 13

only effect that individual

Question 14

germline mutation

Answer 14

in all cells including germ cells can be inherited and passed on

Question 15

types of mutation (4)

Answer 15

missense
nonsense
frameshift
repeat expansion

Question 16

missense mutation=

Answer 16

change in one DNA base pair

Question 17

nonsense mutation=

Answer 17

a change in one DNA base pair causes a stop signal to be produced

Question 18

e.g of frameshift mutations

Answer 18

deletion mutation

insertion mutation

Question 19

insertion mutation=

Answer 19

changes the number of DNA pieces by adding a piece

Question 20

deletion

Answer 20

removes a piece of DNA

Question 21

genetic polymorphism=

Answer 21

2 or more varients of an allele

Question 22

what is a single nucleotide polymorphism

Answer 22

change in 1 base

Question 23

restriction fragment length polymorphism

Answer 23

restriction enzymes recognise a specific DNA sequence to cut

Question 24

short tandem repeats also called

Answer 24

microsatelites

Question 25

what are short tandem repeats mainly made out of

Answer 25

introns

Question 26

what can polymorphism be used for

Answer 26

genetic markers, genetic fingerprinting