Chapter 11 DNA Analysis - Council Rock School District

Chapter 12 DNA Analysis Identify individuals from unique genetic code

In every nucleated cell in the human body Can be extracted from blood, semen, urine, bone, hair follicles, and saliva

In the nucleus of each cell are 46 chromosomes. Each chromosome is made of long strands of DNA wrapped

around proteins called histones. You have 23 pairs of chromosomes One copy is from each parent. A GENE IS A SEGMENT OF DNA THAT CONTAINS THE INSTRUCTION S TO MAKE A PROTEIN

There are about 20,000-25,000 genes in the human genome. Most of your DNA (98%) does not code for proteins. DNA structure Deoxyribonucleic Acid is a macromolecule containing the sugar deoxyribose. It is a polymer made of two

strands of repeating units called nucleotides. Each nucleotide is made of three partsa sugar, a phosphate group, and a nitrogenous base. There are only four different nitrogenous bases Adenine Thymine Cytosine

Guanine Hair color Skin color freckles Widows peak gene

Eye color ne; a segment of DNA that codes for a particular pro One strand of nucleotide s

The hydrogen bonds are very weak, so the two strands can unzip allowing the base sequence to be read when the DNA copies itself,

or when the genes Every three bases codes for one amino acid. A long string of amino acids

make up a protein, and our proteins Jack the Rippe The order of the 3 billion base pairs is 99.9% identical in all

humans. The unique 0.1% gives us incredible diversity. Einstein Mozart YOU! Types of DNA

Nuclear found in the nucleus constitutes 23 pairs

of chromosomes inherited from both parents each cell contains only one nuclei Mitochondrial

found in the cytoplasm is inherited only from mother each cell contains

hundreds to thousands of mitochondria can be found in skeletal remains Nuclear DNA is present in the head of the sperm. Mitochondrial DNA is present in the tail. At conception, the head of the sperm enters the egg and unites with the nucleus. The tail falls off,

losing the fathers mitochondrial DNA. Typically blood and other bodily fluids provide DNA for forensic testing and determining a DNA profile, or fingerprint. USES OF DNA FINGERPRINTING: 1. IDENTIFY POTENTIAL SUSPECTS


Polymorphism 1. After isolating the DNA from the cell, restriction enzymes are used to chop up the DNA into small pieces (or DNA fragments). Different restriction enzymes recognize different DNA sequences and therefore cut the DNA at different places in the sequence. You end up with many fragments of different lengths (theyre

Animation 2. Now, the many fragments are separated by gel electrophoresis. A gel provides a barrier through which the DNA fragments can slowly

travel. An electrical current draws the negatively charged DNA from one end of the gel to the other, but the polymorphic fragments dont travel at the same speed, so theyre Virtual lab

Animation Unique banding pattern is your DNA profile or DNA fingerprin Polymerase Chain Reaction (PCR) Make millions of copies of DNA from a

small sample Quick and easy in the lab, DNA less susceptible to degradation Requires 50x less DNA than what is needed for RFLP

Short Tandem Repeats (STR) Used more commonly than RFLP because: Takes less time Requires less of a sample size Is more exclusionary (eliminates more people as the source of the DNA) STRs are

locations (loci) on the chromosome that contain short sequences of 2 to 5 bases that repeat themselves in the DNA molecule. They are

markers not found in the coding part of a gene. THO1 One commonly used STR 5 11 repeats of A-A-T-G on

chromosome 11 in the introns of the tyrosine hydroxylase gene There are 7 variants of THO1 in humans Short Tandem Repeats STR

typing is visualized by peaks shown on a graph. (STR) Each peak represents the size of the DNA fragment. FBIs CODIS DNA Database Combined DNA Index System Used for linking serial crimes and unsolved cases with repeat offenders

Launched October 1998 Links all 50 states Requires >4 RFLP markers and/or 13 core STR markers CODIS CODIS

1. Probability of Identity Is a measure of the likelihood that 2 random individuals will have an identical STR type

2. Probability is determined By multiplying their frequencies 3. Probability of another unrelated individual Having the first 3 STRs match is

1 in 5000 STR African-American Caucasian D3S1358 0.097 vWA 0.074

FGA 0.036 U.S 0.080 0.068 0.041 8/100 x 6.8/100 x 4.1/100 = 223 / 1 000

000 1 / 5000 in the U.S. Caucasian population 4. The probability of frequency For the first 6 STRs is

1 in 2 million 5. The probability of frequency of all 13 STRs is

1 in trillions (1 trillion= 1 000 000 000 000) World population is over 7 billion! Three Possible Outcomes MatchThe DNA profile appears

the same. Lab will determine the frequency. ExclusionThe genotype comparison shows profile differences that can only be explained by the two samples originating from different sources. InconclusiveThe data does not support a conclusion as to whether

the profiles match. DNA Interactive The website below has a STR animation demonstration. Click on human identification, profiling and then on the third circle called Todays

DNA Profiling to see the demonstration. html Nicole Brown Simpsons blood a match for the

blood on a piece of evidence. Data Uses of DNA Fingerprinting A. Identification of remains

Case Study: The Angel of Death: Josef Mengele Josef Mengele was a Nazi

war criminal notorious for grotesque human experiments that he carried out at the Auschwitz concentration

camp. After the Second World War he fled from the Allies and escaped to

South America. The fugitive succeeded in living out the rest of his days without being

caught. Wolfgang Gerhard Embu 198 5

Died 1979 Using DNA extracted from blood provided by Mengeles ex-wife and son, it was concluded that it was more than 99.94% certain that the skeleton was Mengeles Irene

Rolf B. Paternity Cases Whos your 1. 1.

2. 2. Case Study: The Sally Hemings

and Thomas Jefferson Controversy Thomas Jefferson (April 13, 1743July 4, 1826) Third president of the United States

(18011809) Principal author of the Declaration of Independence and one of the most influential Founding Fathers for his promotion

of the ideals of republicanism in When President John F. Kennedy welcomed forty-nine Nobel Prize

winners to the White House in 1962 he said, "I think this is the most extraordinary collection of talent and of human knowledge

that has ever been gathered together Jefferson has been consistently ranked by scholars as one of the GREATEST U.S.PRESIDENTS. Thomas Jefferson an

enigma Jefferson owned many slaves over his lifetime. Some find it

baffling that Thomas Jefferson owned slaves yet was outspoken in saying that slavery was immoral

and it should be Biographers point out that Jefferson was deeply in debt and had encumbered his slaves by notes and mortgages;

he chose not to free them until he finally was debtfree, which he never was. Elizabeth Hemings Johns slave

John Wayles 3a. Sally Hemings (1773) 1776

Jeffersons Father-in-law 1802..James T.Callender (a disappointed office-seeker) In a Richmond newspaper Jefferson had kept as

his concubine, one of his own slaves and had several children by her Two of Sallys children: Madison and Eston

claimed that Jefferson was their father. This belief was passed down through the generations. The Jefferson-Hemings story Denied by his children on practical and moral grounds

Jefferson descendants claim that Jeffersons nephews Peter and Samuel Carr were the fathers of the light-skinned Monticello slaves some thought to be Jeffersons children. The JeffersonHemings Story was sustained throughout the 19th century by: abolitionists

British critics of US demo THE DNA TESTS Conducted by Dr. Eugene Foster and a team of geneticists in 1998

No direct male descendants of Thomas Jefferson have survived The DNA Study Tested Y- chromosomal DNA samples from male-line

descendants of Field Jefferson (Thomas Jeffersons uncle), John Carr (paternal grandfather of Samuel and Peter Carr) Eston Hemings (Sallys second son) Thomas C. Woodson (reputed to be

The DNA Study: (1) Found NO LINK between the descendants of Field Jefferson and Thomas C. Woodson (reputed to be Sallys first son, but no records of his birth have been found to substantiate this)

X (2) Found NO LINK between Hemings and Carr descendants X

(3) Found that an individual carrying the male Jefferson Y- chromosome fathered Eston Hemings

(born 1808), the last known child of Sally Does this mean that Thomas Jefferson was definitely the father of Eston Hemings?

No, it means that he COULD BE the father of Eston Hemings. There were 25 adult male Jeffersons who carried this chromosome living in Virginia at the time, and a few of

them are known to have visited Monticello November, 1998 Jefferson Fathered Slaves Last Ch The Thomas Jefferson Memorial Foundation

issued a report in January 2000 concluding that there is a strong likelihood that Thomas Jefferson was the father of at least one and

perhaps all the children of Sally Hemings. May 27, 2002 The Monticello Association

An organization for descendants of Thomas Jefferson refused to recognize and admit any descendants of Sally Hemings The

Monticello Association, decided to continue to restrict membership to Jefferson's descendants through his daughters Martha and Maria. Many elements of the JeffersonHemings story are widely accepted : Sally

Hemings (1773-1835) was a slave at Monticello, She lived in Paris with Jefferson and two of his daughters from

1787-1789 Sally had 6 children The births of Sallys children were recorded in Monticello records: Harriet (born 1795; died in infancy) Beverly (born 1798) An unnamed daughter (born 1799;

died in infancy) Harriet (born 1801) Madison (born 1805) Eston (born 1808) Sally Hemings: Ladys maid to daughters Martha and Ma

Nursemaid - companion to Jeffersons daughter Maria seamstress No known images of Sally ?

Sally left no known written accounts It is not known if she was literate There are only a few.. Scattered

references to Sally in Thomas Jeffersons records There is nothing to distinguish her from any other members of her family or any other slaves

Records indicate that.. At the likely conception times of Sallys six known

children Sallys children were.. Light-skinned and three of them, daughter Harriet and sons Beverly and

Eston lived as members of white society According to contemporary accounts Some of Sallys children Strongly resembled Jefferson

Freed by Jefferson during his lifetime: Robert Hemings (1762-1819), freed 1794 James Hemings (1765-1801), freed 1796 Freed in 1826-1827, by the terms of Jefferson's will: Joseph (Joe) Fossett (1780-1858) Burwell Colbert (1783-1850+) Madison Hemings (1805-1856)

John Hemmings (1776-1833) Eston Hemings (1808-1856) Left Monticello, with Jefferson's tacit consent, in 1804 and 1822: James Hemings (born 1787) Beverly Hemings (born 1798) JEFFERSO N

GAVE FREEDOM TO NO OTHER Jefferson did not free Sally Hemings. She was

permitted to leave Monticello by Maria Jefferson Randolph not long after Jeffersons death in 1826 and went to live with her sons Madison and Eston in Charlottesville. Eston Hemings Changed his name to Eston Hemings Jefferson in 1852 Madison Hemings stated in 1873 that he and his siblings were Thomas Jeffersons children.

The descendants of Eston Hemings Who lived as whites, passed down A family history of being related to Tho

The descendants of Madison Hemings Who have lived as AfricanAmericans have passed a family history of descent from

Thomas Jefferson and The Thomas Jefferson Foundation Stands by its original findings - that the weight of evidence suggests that Jefferson probably was the father of

Eston Hemings and perhaps the father of all of Sally Hemings children but is ready to review new evidence at any time and to reassess its understanding of this matter in the light of new information.

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