Genetics Patho

gamete

mature male or female haploid cell

allele

version of a gene, 2

gene

made of DNA

Punnett square

probability of mendialian trait per pregnancy

zygote

diploid cell from 2 haploid cells

chromosomes

nucleic acids in nucleus with genes

homozygous

two same alleles

heterozygous

two different alleles

penetrance

proportion with disorder that show the s/sx of it

expressitivity

individual probability

genotype

composition of genes

phenotype

outward expression of a gene

DNA structure

double helix

DNA nucleotides

two chains with deoxyribose

DNA bases

A-T, C-G

RNA structure

single stranded polynucleotide

mutagen

agent that causes mutation

subititute mutation

base pair replaced with another

insert mutation

new base pair added

missence mutation

pair substuted

nonsense mutation

stop codon added randomly

frameshift mutation

insertion or deletion of base pair

autosomal dominant inheritance

1 copy needed, no career status, in every generation. Huntingtons and warfan

autosomal ressesive inheritance

two copies needed and need carrier status, not in every generation. cystic fibrosis and sickle cell

x link recessive inheritance

mother to son shows disorder. mother to daughter is a carrier. father doesn’t give to son. father to daughter becomes obligate carrier. colorblindess and muscle dystrophy

x linked dominant

in every generation, father only gives to daughters. Rhett syndrome.

somatic cells

diploid with 46 chromosomes by mitosis

gamete cells

haploid cell with 23 chromosomes by miosis (sperm and egg)

nondisjunction

anuploidity, chromosomes don’t equal 46

Down syndrome

extra chromosome 21, triomy 21

turner syndrome

feel only has 1 x chromosome, 45x

translocation

balanced or unbalanced, 13, 13, 15, 21 or 22

DNA methylation

attached methyl group which silences transcription

histone modification

alters DNA histone binding

miRNA

noncoding RNA regulation

imprinting

gene silencing usually methylated

prader will

chromosome 15 deletion from father, causes small features

beckwith W

over growth, cancer causing

multifactorial inhertence

environment and genetics

epidemiology

indicendce is new cases and prevalence is proportions

Coronary heart disease

multifactorial, genetic, life style, maternal medication exposure

hypertension

multifactorial, atherosclerosis

diabetes

1st is T cells attack insulin B cells in pancreas. 2 is insulin resistance

obesity

mulitfactoral, BMI >30