Pathology module 4

DNA

made up of 3 billion base pairs of chemical bases

4 types of base pairs

Adenine, Thymine, Cytosine, Guanine

genetic information of an organism

genome

genome broken down into pieces

chromosome

23

How many pairs of chromosomes do humans have

46

how many chromosomes do humans have

genes

segments of DNA on chromosomes

provides instructions to make proteins which make you

genes

DNA looks exactly the same in every organism on earth

true

first 22 pair of chromosomes

autosomes

last pair of chromosomes

sex chromosomes

karyotype

visual chart of chromosomes in numerical order

female sex chromosomes

XX

male sex chromosomes

XY

47

how many chromosomes do people with down syndrome have

centromere

ensures each daughter cell will have a full set of chromosomes

metacentric chromosomes

centromere is in center

submetacentric chromosomes

centromere is off-center

acrocentric chromosomes

centromere is near the end

acrocentric

submetacentric

metacentric

trisomy

person has 3 copies of a chromosome

human DNA is 99.9% similar to each other

true

SNPS

variations in genes are caused by

polymorphism

many forms

SNPS

one-letter difference in the gene that allows for differences in characteristics between people

single base change that occurs in less than 1% of the population

mutation

characteristic of a person caused by genetic or environmental factors

trait

different versions of a gene

allele

similar alleles

homozygous

heterozygous

different alleles

dominant allele

always shown if inherited

recessive allele

require 2 copies to show

genotype

alleles you inherit

phenotype

physical traits

eye color is influenced by 2 or more different genes

true

21,000

how many genes are in the human genome

SNPS are mutations in the genetic code that cause disease

false

genetic disorders

differences in DNA

congenital disorders

caused by something that happened or did not develop correctly

congenital

occurring at or around time of birth

congenital

stunted development from drinking alcohol, drugs, or a virus

congenital

baby getting cerebral palsy from being deprived of oxygen during delivery

DNA

long stringy stuff that sits inside of cells

true

errors in copying DNA may cause incorrect proteins that cause genetic disorders

sex linked

disorders caused by genes on the sex chromosomes

x linked

disorders caused by genes on the x chromosome

autosomal dominant

1 diseased gene is needed to get the disease

autosomal recessive

2 diseased genes are needed to get the disease

genetic disorders with x linked inheritance affect female and males differently

true

x linked

disorder caused by genes in the X chromosomes

recessive

are most X-linked disorders dominant or recessive

person has 1 diseased recessive gene

carrier

cystic fibrosis

recessive disorder on chromosome 7 that results in lungs producing thick, sticky mucus and problems with critical enzymes involved in digesting food

with this mutation on chromosome 15, fatty substance in the cell membrane is not broken down and fat builds up in the brain, killing brain tissue

tay sachs

PKU - phenylketonuria

metabolism disorder caused by chromosome 12 where they lack a specific enzyme, this causes high levels of amino acid phenylalanine to build up in the brain

mutation in chromosome 11 causing a problem with the red blood cells. The hemoglobin is abnormal and makes the cells into a C shaped instead of round. These cells cannot go smoothly through the bloodstream and get lodged in the capillaries, causing extreme pain and even blocking circulation

sickle cell anemia

cystic fibrosis, sickle cell anemia, tay sachs, PKU

autosomal recessive disorders

achondroplasia

mutation in chromosome 4 that causes dwarfism

familial hydrocholesterolemia

mutation in chromosome 19 causing high cholesterol

polydactyly 

mutation on chromosome 7 that causes more than five fingers or toes

Marfan syndrome

mutation on chromosome 15 causing you to be tall and lean with a long face, arms, and legs

Huntington’s disease

mutation on chromosome 4 that causes the letters CAG in DNA to constantly repeat, causes brain damage overtime

pedigree

record of descendant

autosomal dominant disorders have carriers

false

most common type of sex linked disorder

x linked recessive

who determines the sex of the baby

males

mutation in dystrophin gene caused on X chromosome which causes progressive muscle weakness and early death in boys

Duchenne muscular dystrophy

hemophilia

missing a clotting factor in the blood

SCID

causes decreased number of T lymphocytes

fragile x syndrome

causes changes in the FMR1 gene on the X chromosome, which makes a protein needed for brain development. Defective gene repeats letters CGC over and over.

red-green color blindness

caused by defect in the OPN1LW and OPN1MW genes on the X chromosomes. defect is found in approximately 1 out of 12 boys and 1 in 200 females

monosomy

person with 1 chromosome instead of 2

trisomy 21

down syndrome

trisomy 13 - Patau Syndrome

most die before 1 month of age and only 5-10% live past age 1

Turner Syndrome

Because of the missing extra X chromosome, people with it appear female, but the ovaries and other female characteristics do not develop normally at puberty. only affects females

cry du cat syndrome

part of the short arm chromosome is missing, making genetic material for it unavailable. Most children with this syndrome have neurological and physical problems and a shortened lifespan

proteins are made up of

amino acids

cancer

cells grow out of control

overgrowth of cells

hyperplasia

dysplasia

cells continue to divide and look abnormal in appearance

neoplasm

tumor

benign

noncancerous

lipoma

benign fatty tumor

malignant

cancerous

benign blood vessel tumor

hemangioma

meningioma

benign tumor in brain covering

benign tumor of muscle tissue

myoma

different cancers have different risk factors, treatments, prognosis

true

fibroma

benign tumor in fibrous tissue

adenoma

benign tumor in glandular tissue

metastasis

cancer breaks off and travels to a new place

carcinoma

cancer of epithelial tissue

sarcoma

cancer of connective tissue

melanoma

cancer of pigment cells

lymphoma

cancer of lymphocytes

glioblastoma

brain cancer

leukemia

cancer of white blood cells

true

cancer is named from where it originates