high risk prenatal testing⬆
amniocentesis, chorionic villus sampling (CVS), percutaneous Umbilical Blood Sampling (PUBS), Fetoscopy, X-Rays
low risk prenatal testing ⬇
rh factor, hemoglobin, syphilis, rubella, toxoplasmosis, HIV testing
somatic mutations
BODY cell mutations, only passed to cells made from mutated cell
germ mutations
SEX cell mutations, if fertilized will pass to EVERY SINGLE CELL of the baby 👶
chromosomal mutations
is a STRUCTURAL change in the segment of chromosomes
gene mutations
is the ALTERATION of a nucleotide sequence of a gene
routine pregnancy tests
blood tests, urine tests, ultrasound, fetal heart monitoring, glucose challenge screening (btw this is bc of diabetes #shoutout), quad screening, anomaly ultrasound, group b strep test and kick count (why is this one so long)
non routine pregnancy tests
cell-free dna tests, chorionic villus sampling, amniocentesis, glucose TOLERANCE test, non stress test, biophysical profile, contraction stress site
chromosonal mutation diseases
down syndrome, patau syndrome, trisomy (triple), turner's syndrome, klinefelter's syndrome, cri-du-chat
Down Syndrome
trisomy 21. short face, often round and misshapen, oversized tongue, mental 'retardation'
Patau Syndrome
trisomy 13. neural tube defects, facial clefting, some mental 'retardation'
trisomy (triple)
trisomy XXX. taller than average, mildly clumsy, varying degrees of mental 'retardation'
turner's syndrome
monosomy X (xo). short stature, webbed neck, swollen hands and feet at birth
klinefelters
trisomy xxy. underdeveloped testes (sterile), overdeveloped breasts. treated w/ surgery and/or hormones.
gene mutations- point, autosomal, recessive
albinism, sickle cell anemia, PKU, cystic fibrosis
albinism
Tyrosinase protein cannot make melanin. Skin, hair, and eyes don't have pigment; sensitive to UV.
sickle cell anemia
Hemoglobin A makes hemoglobin S. RBC elongate + sickle, and get stuck. Higher risk for those of African descent. Drug treatment: hydroxyurea
PKU
Phenylalanine Hydroxylase enzyme doesn't break down phenylalanine. Phenylalanine builds up and damages brain cells.
cystic fibrosis
CFTR doesn't move chloride ions across membranes. Mucus buildup, when coughed up can be swallowed and build up in digestive tract.
gene mutations- point, dominant, autosomal
achondroplasia, marfan syndrome, huntington's chorea
achondroplasia
FGFR3 protein converts cartilage to bone, arms and legs stop growing prematurely (homozygous dominant [AA] is fatal, heterozygous [Aa] is dwarfism, homozygous recessive [aa] is normal height).
marfan syndrome
Fibrillin protein causes increase in TGFB (growth factor protein). Causes tall height, loose joints, large arm span.
Huntington's chorea
Huntington's protein triplet repeat breaks down brain cells, onset at 30 years.
gene mutations- x linked, recessive, autosomal
hemophilia, duchenne muscular dystrophy, colorblindness, fragile X
hemophilia
factor 8 blood cant clot and treated w/ synthetic clotters
Duchenne muscular dystrophy
Dystrophin protein causes muscle breakdown in early childhood
colorblindness
receptor protein is defective; messes up color detection. Red-green is most common.
fragile x
triplet repeat (ccg) or fmr1 protein. hinders proper neurological development
monosomy
when cells of an organism have only 1 homolog of a particular chromosome (instead of 2)
trisomy
when cells of an organism have 3 homologs of a particular chromosome
Polyploidy
when cells of an organism have more than 2 SETS of chromosomes (3n, 4n, 5n, etc.) Occurs in plants; fatal in animals.
chromosomal mutations (types)
non-disjunction and structural
Non-disjunction
when chromosomes don't separate properly during cell division; monosomy, trisomy, polyploidy
Structural
when a piece of chromosome breaks off and/or reattaches elsewhere. Can happen during crossing over of tetrads (Prophase I of meiosis); deletion, duplication, translocation/insertion, inversion
deletion-
a piece of chromosome is missing
duplication
a piece of chromosome breaks off and reattaches to its homolog (so both genes for the trait are on the same chromosome)
translocation/insertion
pieces of non-homologs swap or one breaks off and reattaches to a non-homolog (so genes have been relocated to different chromosomes)
inversion
a piece of chromosome breaks off and reattaches to the same chromosome but upside down (inverted)
gene mutations (types)
point (base substitution) and frameshift
Point (Base substitution)
when a single nucleotide is changed in a gene. This causes the triplet to code for a different amino acid, creating a protein that doesn't function correctly.
frameshift
When a nucleotide is added or deleted from a gene, causing the triplet (or codon) reading frame to shift, coding for different amino acids from that spot forward on the protein.
silent point mutation
change still codes for same amino acid/protein
missense point mutation
change codes for a different amino acid (almost make correct protein)
nonsense point mutation
change codes for stop (protein not made)
Frameshift mutation
every amino acid after the insertion or deletion is changed.