CHEM/BIO exam 2

Homologous chromosomes

Chromosome pairs with same genes at same loci.

Gene

DNA segment coding for a specific trait

Allele

Alternative forms of a gene (A or a).

Dominant

Trait is expressed with only one copy of allele present

Recessive

Trait is expressed only is 2 copies of the allele present

Homozygous

Two identical alleles (AA or aa)

Heterozygous

Two different alleles (Aa)

Genotype

genes of particular individual

Phenotype

Physical characteristics of the individual or metabolic trait (e.g., brown eyes)

Law of Segregation

Alleles separate during gamete formation in meiosis.

Law of Independent Assortment

Genes for different traits separate independently.

Incomplete dominance

Heterozygous phenotype is between the two parental phenotypes (pink flowers).

Codominance

Both alleles expressed (AB blood type).

Multiple alleles

More than two forms (A, B, O blood types).

Polygenic traits

Many genes affect one trait (skin color, height).

Dihybrid

cross involving two traits

Autosomal Dominant with example

requires the inheritance of one dominant allele to display disorder (e.g. Huntington's)

Autosomal Recessive

two copies of recessive alleles to display the disorder (e.g. Cystic fibrosis)

Sex-linked Recessive

mutation in X chromosome

Epigenetics

Gene expression changes without DNA change

Twins

Used to study genetics vs. environment

Nondisjunction

Error in meiosis in which homologous chromosomes fail to separate.

Deletion

missing piece

Duplication

extra copy

Translocation

swapped pieces between chromosomes

Inversion

flipped segment

Axial

skull, vertebral column, ribs.

Appendicular

limbs, girdles.

Voluntary muscle contraction

when you make a conscious effort to contract your muscle for a part of your body to move

Involuntary muscle contraction

muscle movement without conscious control

Stomach

churns food; secretes acid & enzymes.

Small intestine

digestion + absorption

Duodenum

connects to liver, gallbladder, pancreas.

Large intestine

absorbs water; forms feces.

Liver

detoxifies blood, produces bile.

Gallbladder

stores bile.

Pancreas

produce enzymes & hormones

Nutrition

Carbs, proteins, fats, vitamins, minerals, water

Digestive System Disorders

Ulcers, polyps, diarrhea, constipation, pancreatitis, pancreatic cancer, jaundice, hepatitis, cirrhosis, gallstones

Ulcers

Open sores in the lining of the digestive system

polyps

small growths arising from the epithelial lining in the colon

diarrhea

frequent passage of loose, watery stools, can be acute or chronic

constipation

the passage of a hard, dry stool

pancreatitis

inflammation of the pancreas

pancreatic cancer

Cancerous tumor of the pancreas

jaundice

abnormally large amount of bilirubin in blood

hepatitis

inflammation of the liver

Cirrhosis

Chronic disease of the liver

Gallstones

Small crystals that form from bile in the gallbladder.

Heart has 4 chambers:

right/left atria & ventricles

Valves…

prevent backflow

Major vessels

aorta, vena cava, pulmonary arteries/veins.

Pulmonary circuit

RA-lungs-LV

Systemic circuit

LV-body-RA

Blood clotting

platelets + fibrin

Blood pressure

120/80, highest in arteries, lowest in capillaries 

Disorders of blood

atherosclerosis, hypertension, heart disease

Human Genome Project (HGP) goal

to sequence the 3.2 billion bases of the human genome

Key scientists in HGP

Francis Collins (public), Craig Venter (private)

Outcome of HGP

accomplished the goal of sequencing the genome ( sequence did not include centromere or telomere regions)

GINA (2008)

Law preventing genetic discrimination when hiring, firing, job placement

Genetic Testing reasons

Diagnose disease, ancestry, drug response.

Companies for genetic testing

23andMe (Anne Wojcicki), DNAfit, prenetics, circleDNA, teloyears

Roles of mouth and esophagus

swallowing response

Roles of uvula

close off nasopharnyx, salivia, immune, speech

Genotyping

determine which genetic variants an individual possesses

Sequencing

determine the exact sequence of a certain length of DNA

SNPs (Single Nucleotide Polymorphisms)

One-base variations that can affect traits/disease risk.

Precision Medicine success

Tailoring treatment to genetics (e.g., cancer therapy).

Reasons to pursue genetic testing

diagnostic, pre-symptomatic, carrier assessment

Benefits of genetic testing

provide clarity, better health surveillance, education about treatment

Risks of genetic testing

anxiety,affect family members

Precision Medicine barriers

cost, privacy, data analysis

HMP

Human Microbiome Project studied microorganisms in the body

Microbiome findings

gut bacteria affect digestion, immunity, mood

STRs (short tandem repeats) used in

forensics/paternity testing

SNPs used in

ancestry & health prediction.

Public databases

helped solve cold cases (e.g., Golden State Killer)

Parabon Snapshot

predicts facial features from DNA

Face of litter

where genetic material left on litter is used to predict facial traits and generate a sketch of a person's face

DNA fingerprinting

analysis of fragments of DNA as a form of identification

Paternity Testing

Determining biological relationships using DNA.

Osteoporosis

body lose too much bone or litte

osteoarthritis

smooth cartilage

Rheumatoid

attack on synoviak membrane that encases and protects joints

fibromyalgia

chronic pain in hip, neck, shoulders, back

muscular dytrophy

muscle becomes less, organized with less dystrophin protein

Gastric gland in the lining of stomach secrete____

pepsinogen, HCI, and mucus

Mucus

protects the wall of the stomach from the HCI

STR (short tendum response)

repeat in DNA, fingerprint, found in same region, used for forensic and paternity study

Examples of cases for DNA fingerprint

Golden state killer 2018 and April tinsley 1988

Red bone marrow

produce blood cells

yellow bone marrow 

produce stem cell, fat, cartilage

microvili/vili is responsible for

absorption

systole

contraction of heart muscle

Diastole

relaxation of heart muscle

Blood Returning from body

RA-RV-LA-LV

Companies for DTC

23 and me, ancestry, myheritage

Vertebral column

7 cervical, 12 thoracic, 5 lumbar, 5 sacral, 3-5 coccyx

True ribs

7 upper pairs attached to sternum