Biology - Human Genetics, DNA, RNA and Proteins Review

How many total pairs of chromosomes?

23

How many total pairs of autosomes?

22

How many total pairs of sex chromosomes?

1

Genome -

all the genetic material in an organism

Histones -

DNA is wrapped around these proteins

Karyotype -

a picture of the chromosomes of an individual

Sex Chromosomes For Male -

XY

Sex Chromosomes For Female -

XX

A karyotype helps doctors/researches…

see if you have genetic disorders (added or missing pieces of a chromosome)

Down Syndrome, also known as…

Trisomy 21

Nondisjunction of Chromosomes -

failure to separate properly during meiosis

Down Syndrome can be detected through a karyotype if…

there is an extra chromosome on pair 21 (hence trisomy 21)

Klinefelter's Syndrome -

sex chromosomes disorder in which the male is XXY

Turner's Syndrome -

sex chromosome disorder in which a female has only one X chromosome

Duplication in Chromosomes -

a portion of a chromosome is repeated

Deletion in Chromosomes -

a portion of a chromosome is lost

Inversion in Chromosomes -

a portion of a chromosome piece is reversed

Translocation in Chromosomes -

a fragment of one chromosome attaches to a non-homologous chromosome. In some cases, this can be reciprocal.

Transposons -

some genes had the ability to move from one place to another in a chromosome

Pedigree -

resembles a family tree; circles for female, squares for male. Coloured in shapes indicate individuals with the trait. Parents are connected with horizontal lines with children underneath them.

What are the 5 Autosomal Recessive Disorders?

Albinism, Tay-Sachs Disease, Cystic Fibrosis, Phenylketonuria (PKU), Sickle Cell Disease

What is the 1 Autosomal Dominant Disorder?

Huntington's Disease

What are the 3 X-Linked Chromosomal Disorders?

Hemophilia, Colour Blindness, Duchenne Muscular Dystrophy

Tay-Sachs Disease -

a person born without an enzyme that prevents lipid build up in brain cells *most common in Jewish people of eastern European ancestry

Cystic Fibrosis -

the gene involved codes for a protein in the lungs and some digestive organs interferes with breathing and other functions

Phenylketonuria (PKU) -

results in a lack of an enzyme that changes the amino acid phenylalanine to tyrosine causes mental slowness

Sickle Cell Disease -

Genetic disorder in which red blood cells have abnormal hemoglobin molecules and take on an abnormal shape

Huntington's Disease -

dominant disorder where symptoms do not usually appear until late 30s gradually attacks the bodies nervous system

Hemophilia -

does not allow an individuals blood to clot properly

Colourblindness -

When people cant tell the difference between colours

Duchenne Muscular Dystrophy -

gradually loses both large and fine motor control

X-Ray Diffraction/Crystallography -

The process in which a picture of a molecule, such as DNA, is produced showing a scatter pattern of deflected particles

Famous "photo 51" is by this scientist, which helped discover true shape/structure of DNA -

Rosalind Franklin

Famous model of DNA built by…

James Watson and Francis Crick

Shape of a DNA Molecule -

double helix

Shape of a RNA Molecule -

single helix

Replication -

process of making new copies of DNA

Transcription -

the process of making a copy of DNA and forming messenger RNA

Where are nitrogen bases located on a model/molecule of DNA?

inside of "ladder"

Building blocks of nucleic acids:

nucleotides

There are _ types of RNA in the body.

3

What are the 3 types of RNA in the body?

Messenger, Transfer, and Ribosomal

RNA Polymerase -

important enzyme that helps bring the new nucleotides together

Hydrogen Bonds -

holds the nitrogen bases together in a molecule of DNA

Nitrogen Bases Found In DNA -

Adenine and Thymine

Base Pairing Rules:

G-C, A-T, A-U (specifically for RNA), (and vice versa)

DNA -

remains in the nucleus of the cell

Translation -

process of joining amino acids to make a polypeptide/protein

Messenger RNA -

found both in the nucleus and the cytoplasm/ribosomes of the cell

Transfer RNA -

"carries" the amino acids to their proper codon on messenger RNA

Codons are groups of 3 nitrogen bases that are found in which type of RNA?

Messenger RNA

Anticodons are groups of 3 nitrogen bases that are found where?

Transfer RNA

Substitution -

type of gene mutation occurs when one nitrogen base is replaced with another

Insertion -

type of gene mutation occurs when an extra base is "added"

Deletion -

type of gene mutation occurs when a base is "missing"

How are chromosome pairs arranged in a karyotype?

biggest to smallest

Chromosome Combination For A Male With Klinefelter's Syndrome -

XXY

Chromosome Combination For A Female With Turner's Syndrome -

Chromosome Combination For An Individual With Down Syndrome -

Trisomy 21 (extra pair of chromosomes in chromosome pair 21

Duplication -

chromosomal mutation where a section of chromosome is repeated

Translocation -

chromosomal mutation where a section of chromosome breaks off and ends up on a different chromosome

Deletion -

chromosomal mutation where a section of a chromosome is missing

Inversion -

chromosomal mutation where a section of a chromosome is flipped around