bio mutations

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.