Genetics Lecture

Part I: DNA

DNA

DNA is a rather large molecule containing nitrogen and phosphate

DNA is a polymer made from many thousands of nucleotides strung together

Nucleotide
It is made of a Deoxyribose (5 carbon Sugar) Phosphate group (PO4) Base (A,C,G,T)

Nitrogenous base
Adenine (A) Thymine (T) Cytosine (C) Guanine (G)

A single or double ring molecule containing nitrogen There are 4 different kinds

Erwin Chargoff
His research showed that in all the DNA he studied the amount of Guanine (G) equaled the amount of Cytosine (C); and the amount of A = amount of T

Rosalind Franklin
Her X-ray Diffraction data showed that DNA was organized as a helix

Photo 51

DNA structure
2 2 or 3 strands strands?

James Watson & Francis Crick

They guessed where to put the phosphates
(on the outside)

and bases

(on the inside)

DNA Structure
Nucleotides are Like beads strung together on a string

Phosphates are on the outside, Bases are on the inside

DNA Structur e
Hydrogen bonds

The strands are held together by

DNA Structure
Like a ladder: The sugar phosphate backbone are the rails Pairs of bases form the rungs

The sugar phosphate backbone looks like this: Phosphate Sugar-BASE phosphate Sugar-BASE phosphate sugar -BASE Phosphate Sugar-BASE phosphate Sugar-BASE

DNA Structure
Bases are hydrogen bonded to Complementary eachPairing other Base which joins the two strands Adenine can only H-bond to Thymine and Cytosine can only Hbond to Guanine

DNA Structure

Antiparallel

-BASE -BASE -BASE -BASE -BASE

Phosphate Sugar -BASE phosphate Sugar -BASE phosphate sugar -BASE Phosphate Sugar -BASE phosphate Sugar -BASE

Phosphate Sugar phosphate Sugar phosphate sugar Phosphate Sugar phosphate Sugar

Anti-parallel

Part II: Chromosomes

Chromosomes
Linear units of DNA Come in pairs (homologous pairs) Each species has characteristic number

Number of chromosomes doesnt matter how evolved a species is.

Bacteria do not have chromosomes

they have circular pieces of DNA

Chromosome Anatomy
Chromosomes come in two forms:
duplicated unduplicated
Centromere

Duplicated chromosomes are made up of two chromatids

Referred to as sister chromatids

Chromosome

Sister Chromatids

Chromatids are joined at a region called the centromere Chromatids are identical Each chromatid is a double helix of DNA

Chromosome (duplicated)

Genes
Functional units of DNA Code for proteins Humans have 2025K genes*
Only 3% of genome contains genes
http://www.ornl.gov/sci/techresources/Human_Genome/faq/genenumber.shtml

Human Genome
Refers to all the DNA in human cells Contains 3 Billion base pairs Sequencing (HGP) completed April 25th 2003

What is the Human Genome Project?

The Human Genome Project (HGP) was an international 13-year effort formally begun in October 1990. The project was planned to last 15 years, but rapid technological advances accelerated the completion to 2003. Project goals were to determine the complete sequence of the 3 billion DNA subunits (bases), identify all human genes, and make them accessible for further biological study.
http://www.ornl.gov/sci/techresources/Human_Genome/faq/faqs1.shtml#genetics

Karyotype
Picture of a species chromosomes

Making a Karyotype
First the chromosomes are stained

Making a Karyotype
Then they are organized by height and centromere location

Autosomes vs sex chromosomes

Chromosome pairs # 1- # 22 are called Autosomes Chromosome pairs # 23 are called the X and Y chromosomes
Two Xs means you are genetically female One X and a Y means you are genetically male

Referred to as the Sex Chromosomes because they contain genes which determine gender

Presence of a Y chromosome means the person is male

Male or Female?

Homologous Pairs
You have two copies of every chromosome You received one from your mother Your received one from your father Homologous pairs have the same genes but not always the same form of the gene 23 pairs 23 x 2 = 46

Abnormal Karyotypes
Too many or too few chromosomes is bad Trisomy means you have 3 copies of one chromosome
Only viable for # 13, 18, 21, X

Monosomy means one chromosome is missing its pair

Only viable for X or Y

Both are caused by errors during Meiosis

Karyotype Nomenclature
Total number of chromosomes The makeup of the sex chromosomes Any extra chromosomes Examples
46, XX 46, XY 47, XY, +21

Haploid Gametes
In order to get one set of chromosomes from each parent, their gametes had to contain only half the normal number of cells
This is known as the haploid number

The haploid number is

half the total number of chromosomes the number of pairs

Haploid Vs Diploid
The haploid number is half the total number of chromosomes or the number of pairs All non-sex cells contain the diploid number of cells The diploid number is the total number of chromosomes

Gametes & Zygotes

Gametes are sex cells
Egg cells Sperm cells All gametes are haploid

When gametes join they form a zygote

All zygotes are diploid