LAA Flashcards
Homozygous
Homozygousis a word that refers to a particular gene that has identical. It is referred to by two capital letters (XX) for a dominant trait, and two lowercase letters (xx) for a recessive trait.
Dominant
An allele that when present displays in an individual.
Recessive
An allele that does not show when a dominant allele is present.
Genotype
An organism’sgenotypeis the set of genes that carries, all the genetic makeup this includes blood group, height, foot size, eye colour
Phenotype
An organism’sphenotypeis all of its observable characteristics — which are influenced both by itsgenotypeand by the environment., e.g. height and weight
Genes
a unit of heredity which is transferred from a parent to offspring and is held to determine some characteristic of the offspring.
Alleles
Analleleis one of two or more versions of a gene. An individual inherits twoallelesfor each gene, one from each parent.
Heterozygous
Heterozygousmeans that an organism has two different alleles of a gene.
Antenatal Ultrasound
- Ultrasound using sound waves
- Creates a 2D & 3D image of the baby
- Monitors and asses the developing foetus
Nuchal translucency Ultrasound
- Done at 11 and 14 weeks
- Measures the fluid under the skin at the back of the babies neck
- Babies with down syndrome tend to have an increased amount
Antenatal amniocentesis testing
- Small amount of amniotic fluid is removed from the sac
- Usually reserved for women that are considered to be at a higher risk of carrying a foetus with chromosomal or genetic abnormalities e.g. older women
Chorionic Villus sampling (CVS)
- Usually done at 11th and 14th week.
- A sample of cells is removed from the placenta.
- Offered is there is a high risk of the baby have chromosomal or genetic conditions
Chorionic Villus procedure
- Transabdominal CVS: a needle is inserted through the tummy (Most common method)
- Transcervical CVS: a tube or forceps are inserted through the cervix.
Blood spot - Guthrie test
- Offered to newborns ideally at 5 days old.
- Test for 1 of 9 rare but serious health conditions such as: sickle cell anaemia, cystic fibrosis, PKU, maple syrup urine disease, congenital hypothyroidism.
Ribosomes
Ribosomes make protein, which are needed for many cell functions such as repairing damage or directing chemical response
DNA
Deoxyribonucleic acid - network of chromosomes responsible for the control of the cell and passing on inherited characteristics.
Golgi apparatus
gathers simple molecules and combines to make molecules that are complex. Takes big molecules and packages them for later use
Cell membrane
- semi permeable membrane
- border of the cell, to keep cytoplasm in place around the nucleus.
Cytoplasm
- Jelly like fluid that fills the cell
- Keeps organelles in their place
Rough endoplasmic reticulum
- Helps with production and storage of proteins
- Has ribosomes on its surface
Smooth endoplasmic reticulum
- Helps with production and storage of proteins.
- Does not have any ribosomes on its surface
Lysosomes
- contain digestive enzymes
- Digest excess or worn out parts of cells, food particles, and engulfed viruses or bacteria