genetic disorders

genetic disorder

disease caused by abnormality in an individuals genetic material

spontaneous genetic disorder

free radicals form as a result of aging → causes damage to DNA → protein synthesis is altered leading to gene mutations → oncogene develops causing rapid cell growth/proliferation → cancer may develop

multifactorial genetic disorder

combination of environmental triggers & variations/mutations of genes as well as inherited tendencies

cancer

this is a sequence for ___: smoke into lungs → cells become deranged → oncogenes created → code for wild uncontrolled growth of cells

multifactorial genetic disorder

what type of disorder is cancer

multifactorial genetic disorders

hypertension, coronary artery disease, diabetes mellitus are examples of

teratogen

any influence that can cause congenital (present at birth) defects

teratogens

drugs, radiation viruses alcohol are examples of what

fetal alcohol syndrome

occurs as result of alcohol consumption causes genes to mutate during development

teratogenic disorders

excessive alcohol consumption and accutane can cause:

chromosomal disorders

results from alterations to the numbers or structure of a chromosome, alters local genes and functionality

21

what number chromosome does down syndrome (trisomy 21) target

47

total chromosomes with down syndrome (trisomy 21)

STRUCTURE (shortens)

philadelphia chromosome alters the ____ of the chromosome

philadelphia chromosome

results from translocation of the chromosome

single gene disorders

caused by an inherited mutated gene that codes for incorrect proteins.

identified as: Autosomal recessive, autosomal dominant, and sex-linked

autosomal recessive

parents both pass down diseased/weak/mutated recessive gene

sickle cell anemia

example of an autosomal recessive disorder

ischemic pain

deformed RBCs of sickle cell clog up capillaries in joints leading to____

autosomal dominant disorder

person inherits mutated, diseased, gene that is dominant

polycystic kidney disease

Dominant gene alters chromosome causes kidney tissue develops cysts impairing function and leading to failure

autosomal dominant disorder

polysystic kidney disese is an example of a___

polycystic kidney disease

hematuria (blood in urine), proteinuria, frequent kidney infections, pain at costovertebral angles and abdomen, kidney stones are SIGNS & SYMPTOMS of ____

X-linked dominant and Y-linked

rarest types of sex linked disorders

x-linked recessive

most common type of sex linked disorder

Male

x-linked recessive are usually expressed in ______ offspring because they will not have the matching normal gene on the other chromosome due to being XY

hemophilia

impairs bodys ability to form clots

hemophilia

example of X-linked recessive sex linked disorder

recombinant DNA

form of genetic engineering results from combining to or more different DNA sources to make proteins not ordinarily produced

recombinant DNA

applications of ____

hgh for kids lacking it

exogenous insulin: Insulin made using synthetic dna for diabetics

factor VIII for hemophiliacs: lab created version of human factor VIII that allows for proper blood clotting

tPA & tenecteplase: clot buster for patients having myocardial infarction (clot that blocks artery/blood flow)