Introduction to genes and inheritence

Question 1

an individual with CF will come into contact with many people

Answer 1

physiotherapist, 
radiographer, 
genetic consultant, 
nurse counsellors,
regional genetics lab, 
nurses, 
transplantation team

Question 2

building blocks of DNA is

Answer 2

nucleotides

Question 3

what does Adenine pair with

Answer 3

Thymine (2H)

Question 4

what does Guanine pair with

Answer 4

Cytosine (3H)

Question 5

what does DNA sit on

Answer 5

chromosomes

Question 6

what are chromosomes made from

Answer 6

two chromatids joined by centromeres

Question 7

what are chromosomal aberrations

Answer 7

defects in the genome at macro level - numerical/structural

Question 8

Downs syndrome (trisomy 21)

Answer 8

extra copy of chromosome 21

Question 9

monosomy X (Turner’s syndrome)

Answer 9

absence of Y sex chromosome

Question 10

translocation

Answer 10

when a part of gene breaks off and then swaps with another one on a different chromosome

Question 11

deletion

Answer 11

a gene (chunk of chromosome) is deleted - mendelian single gene disorders

Question 12

duplication

Answer 12

a gene in the chromosome is repeated

Question 13

inversion

Answer 13

where a gene gets switched around in reading frame

Question 14

substitution

Answer 14

gene on one chromosome is substituted for another

Question 15

what are point mutations

Answer 15

defects in the genome at microlevel e.g. one nucleotide changing in a gene

Question 16

whats the Wild type of a protein

Answer 16

the normal protein

Question 17

silent mutations

Answer 17

where there is no effect

Question 18

missense mutations

Answer 18

when mutation leads to different folding of proteins and so can alter function e.g. sickle cell anaemia (glutamic acid is replaced with valine)

Question 19

nonsense mutation

Answer 19

when a mutation codes for a stop protein and synthesis stops

Question 20

insertion

Answer 20

medelian/single cell disorders - shift in reading frame

Question 21

mutated gene on autosomes examples

Answer 21

autosomal dominant

autosomal recessive

Question 22

mutated gene on X chromosome

Answer 22

X-linked dominant

X-linked recessive

Question 23

mutated gene on Y chromosome

Answer 23

Y-linked

Question 24

mutated

Answer 24

another examples of single gene disorders

Question 25

genotype =

Answer 25

what is in the genome

Question 26

what determines whether the child is male or female

Answer 26

the Y chromosome (so if child has the X linked disorder it has to come from the mother)

Question 27

charecteristic of X linked disorders

Answer 27

tend to be seen in males because they have only one X chromosome

Question 28

what is the central dogma of biology

Answer 28

DNA is converted into proteins

Question 29

what would a nonsense mutation result in

Answer 29

a truncated protein because part of it is missing