genetics, epigenetics and microbiome

Question 1

what is the genome

Answer 1

all the genes

Question 2

what is gemtogenesis

Answer 2

gamete cell division called meiosis

Question 3

where does gametogenesis

Answer 3

gonads (testes and ovaries)

Question 4

how many daughter cells are produced in meiosis

Answer 4

4

Question 5

what does haploid mean

Answer 5

singular set, not a pair

Question 6

what happens to the sperm once the sperm enters the ovum

Answer 6

nucleic membrane of sperm breaks down and male chromosomes are released

Question 7

what does the embryo start as

Answer 7

zygote

Question 8

what then happens to the zygote

Answer 8

it grows - doubles day 2, then doubles day 3

Question 9

what does the zygote then become

Answer 9

embryo

Question 10

what does the embryo then become after doubling

Answer 10

morula

Question 11

what does the morula then become after doubling

Answer 11

blastocyst

Question 12

what are chromosomes

Answer 12

structures that store information needed for structure, function, reproduction and development of an organism

Question 13

how many pairs of chromosomes are there in a human

Answer 13

23 pairs

Question 14

how do most cells divide

Answer 14

mitosis

Question 15

how many daughter cells does mitosis provide

Answer 15

2 identical daughter cells

Question 16

how do gamete cells divide

Answer 16

meiosis

Question 17

what is cytogenics

Answer 17

the study of chromosomes

Question 18

what is karyotyping

Answer 18

process of examining chromosomes

Question 19

what does an abnormal number of chromosomes after fertilisation result in

Answer 19

miscarriage as embryo cannot develop

Question 20

what percentage of pregnancies miscarriage

Answer 20

15%

Question 21

what percentage of miscarriages have had chromosomal abnormalities

Answer 21

50%

Question 22

who is mDNA inherited from

Answer 22

mother

Question 23

why is mDNA not inherited from the father

Answer 23

the mDNA is situated on the neck of the sperm which does not enter the oocyte

Question 24

what can errors in the mDNA cause

Answer 24

rare disorders

Question 25

what does DNA stand for

Answer 25

deoxyribose nucleic acid

Question 26

what is a gene

Answer 26

segment of DNA that contains the code for a specific protein that functions in one or more types of cells in the body

Question 27

do chromosomes contain genes

Answer 27

yes

Question 28

what is an allele

Answer 28

different versions of the same gene

Question 29

what does heterozygous mean

Answer 29

2 different alleles

Question 30

what does homozygous mean

Answer 30

2 alleles which are the same

Question 31

what is phenotype

Answer 31

visible characteristics

Question 32

what is genotype

Answer 32

actual characteristics usually written as a series of bases

Question 33

what does trisomy mean

Answer 33

3 chromosomes of 1 type

Question 34

what does monosomy mean

Answer 34

1 chromosome only

Question 35

what does deletion mean

Answer 35

fragment of chromosome missing

Question 36

what is translocation

Answer 36

fragment of 1 chromosome breaks off and joins w/ another

Question 37

reciprocal translocation

Answer 37

2 chromosomes exchange fragments w/ each other

Question 38

what does ffDNA stand for

Answer 38

free fetal DNA testing

Question 39

what does NIPT stand for

Answer 39

non-invasive prenatal testing

Question 40

how is ffDNA testing done

Answer 40

sample of maternal blood obtained and fragments of fetal DNA extracted

Question 41

why is ffDNA testing done

Answer 41

to determine genetic abnormalities + rhesus status

Question 42

when can rhesus status be detected

Answer 42

16-20/40

Question 43

what is the risk of amniocentesis + chorionic villi

Answer 43

miscarriage

Question 44

what is amniocentesis

Answer 44

extracting amniotic fluid so cells it contains can be tested

Question 45

define chorionic villus sampling

Answer 45

removing and testing a small sample of cells from the placenta

Question 46

what causes down's syndrome

Answer 46

trisomy 21

Question 47

what causes edwards syndrome

Answer 47

trisomy 18

Question 48

what causes patau's syndrome

Answer 48

trisomy 13

Question 49

what is epigenetics

Answer 49

study of how your behaviours and environment can cause changes that affect the way your genes work

Question 50

what do epigenetics do to DNA

Answer 50

change the way that the body processes + reads a DNA sequence

Question 51

what genetic modification already exists

Answer 51

embryonic screening + selection

Question 52

what is embryonic screening + selection

Answer 52

technique which enables 'faulty' genes to be identified prior to implantation

Question 53

what is the legal framework regarding genetic modification in the UK

Answer 53

genetic modification IS legal for medical reasons but not social or economic

Question 54

what affects the microbiome

Answer 54

- diet - lifestyle - age - sex - environment - medications

Question 55

why is skin to skin considered more important for c/s births

Answer 55

because the maternal microbiome impacts fetal development.

Question 56

what impacts the microbiome

Answer 56

- type of birth - skin to skin - mode of feeding - other environmental factors

Question 57

what does breastfeeding provide to help fetal gut

Answer 57

- bifidobacteria - oligosaccharides both help proliferate the gut with beneficial bacteria

Question 58

what is 'gut dybiosis'

Answer 58

an imbalance within the baby's gut which can have a long-term impact on health and wellbeing