Genetics Flashcards
(31 cards)
Genetic risk factors
Multiple losses/infertility
Closely related couples
Multiple congenital abnormalities
Congenital deafness/blindness
Early display of disorders
Sudden cardiac death otherwise healthy
Multi factorial
Not just gene, but conditions to switch it on
Recessive
Need 2 copies to be affected
Dominant
Only need one copy
Sex linked
Carried on x or y
Type of chromosomal conditions
Deletion
Duplication
Translocation
Beta thalassemia
Type of inheritance
Autosomal recessive
Beta thalassemia
Screening timing
Booking bloods
Sickle cell disease (type)
Autosomal recessive
Sickle cell disease
(Screening time)
Booking bloods
newborn blood spot
Phenylketonuria (PKU)
Autosomal recessive
PKU
Newborn blood spot test
Achondroplasia
Autosomal dominant
Maple syrup disease
Autosomal recessive
Maple syrup disease (screening)
Newborn blood spot
Cystic fibrosis (screen)
Newborn blood spot
Cystic fibrosis
Autosomal recessive
What is CVS
Chorionic Villus Sampling - placenta sample
When CVS
11-14 weeks
What is amniocentesis
Sample of amniotic fluid
When amniocentesis
15-20 week usually but can up to birth
Risk of CVS and Amniocentesis
Miscarriage (higher risk in multiple pregnancy)
Risk of infection
Risk of chorioamnionitis
RH neg should receive anti D after
DNA
2 chains of polynucleotides
Genetic instructions
Chromosome
Highly ordered sequence of lines genes
Long chain of DNA packed tightly with help of history as (proteins)
