Genetics

Question 1

Genetic risk factors

Answer 1

Multiple losses/infertility
Closely related couples
Multiple congenital abnormalities
Congenital deafness/blindness
Early display of disorders
Sudden cardiac death otherwise healthy

Question 2

Multi factorial

Answer 2

Not just gene, but conditions to switch it on

Question 3

Recessive

Answer 3

Need 2 copies to be affected

Question 4

Dominant

Answer 4

Only need one copy

Question 5

Sex linked

Answer 5

Carried on x or y

Question 6

Type of chromosomal conditions

Answer 6

Deletion
Duplication
Translocation

Question 7

Beta thalassemia
Type of inheritance

Answer 7

Autosomal recessive

Question 8

Beta thalassemia
Screening timing

Answer 8

Booking bloods

Question 9

Sickle cell disease (type)

Answer 9

Autosomal recessive

Question 10

Sickle cell disease
(Screening time)

Answer 10

Booking bloods
newborn blood spot

Question 11

Phenylketonuria (PKU)

Answer 11

Autosomal recessive

Question 12

PKU

Answer 12

Newborn blood spot test

Question 13

Achondroplasia

Answer 13

Autosomal dominant

Question 14

Maple syrup disease

Answer 14

Autosomal recessive

Question 15

Maple syrup disease (screening)

Answer 15

Newborn blood spot

Question 16

Cystic fibrosis (screen)

Answer 16

Newborn blood spot

Question 17

Cystic fibrosis

Answer 17

Autosomal recessive

Question 18

What is CVS

Answer 18

Chorionic Villus Sampling - placenta sample

Question 19

When CVS

Answer 19

11-14 weeks

Question 20

What is amniocentesis

Answer 20

Sample of amniotic fluid

Question 21

When amniocentesis

Answer 21

15-20 week usually but can up to birth

Question 22

Risk of CVS and Amniocentesis

Answer 22

Miscarriage (higher risk in multiple pregnancy)
Risk of infection
Risk of chorioamnionitis
RH neg should receive anti D after

Question 23

DNA

Answer 23

2 chains of polynucleotides
Genetic instructions

Question 24

Chromosome

Answer 24

Highly ordered sequence of lines genes
Long chain of DNA packed tightly with help of history as (proteins)

Question 25

Karyotype

Answer 25

Number and visual appearance of chromosomal material of a cell
Male 46xy
Female 46xx

Question 26

Gene

Answer 26

Basic physical and functional unit of heredity
Segment of DNA located in chromosome

Question 27

Alleles

Answer 27

Dominant or recessive form

Question 28

Diploid

Answer 28

2 copies of each chromosome
All autosomal cells (46xx or
46 xy)

Question 29

Haploid

Answer 29

Reproductive cells… 23x (oocytes) or 23x/23y (sperm)

Question 30

Genotype

Answer 30

Full set of genes - 50% maternal 50% paternal

Question 31

Phenotype

Answer 31

Expression of the gene - ie blue eyes etc