4.1.

Genetics as a Tool in Anthropology

Each biological system and every human being is defined by its genetic
material. The genetic material is stored in the cells of the body, mainly in
the nucleus of the cells. The cells control the operation of body functions
and the reproduction of the genetic information through the generations.
That means that this information can be traced to explore the origin of man.

Mitochondria

Cell nucleus

DNA distributed in Chromosomes

 Cells and Chromosomes
Chromosome contains a section of
DNA which contains many genes
and proteins. The DNA section may
contain up to one million nucleotides.

Cells are the building blocks of all living

things; cells also contain all the
hereditary information, which is passed
on by cell division and DNA copying.
 Human Chromosomes
All biological cells contain pairs of chromosomes, of different size
Human cells have 23 pairs.

Chromosome DNA contains gene sequences reflecting heritage

Chromosomes determine body functions a Two of the chromosomes

chromosome contains one DNA & protein. identify the human sex, X, Y
The two chromosomes in each pair are
inherited from the each of the parents.
Visualization by neutron crystallography
Chromosome

Neutron diffraction pattern

on the molecular sample is
translated into a 3 d image.

DNA molecule wrapped around a protein core

 Genes
Genes are small sections of DNA structure
which are built by sequences of molecule
building blocks

Adenine A
Cytosine C
Guanine G
Thymine T

Individual genes come with small

variations in the sequences of the
four building blocks which are
mounted in between a phosphate
deoxyribose structure.
 Basic DNA structure
Genetics is the science of heredity and variation in biological systems! It
is based on the gradual change of the gene structure in the DNA
Deoxyribonucleic acid, which contains the genetic code & instructions
for the biological system in the sequence
of the four A, S, G, T types of nucleotides

The DNA forms a double

stranded molecule, the
double helix. Pair coupling
of two nucleotides on the
opposite strand :
A with T,
G with C.
 DNA Structure
Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid
J. D. WATSON, F. H. C. CRICK
CONTEXT: WE wish to suggest a structure for the salt of deoxyribose nucleic acid
(D.N.A.). This structure has novel features which are of considerable biological
interest. A structure for nucleic acid has already been proposed by Pauling and...
Nature 171, 737 (1953)

Structure based on X-ray diffraction pattern analysis of molecule

 Fluorescence Techniques
Important technique is to mark gene molecules by dye which can be
visualized by fluorescence of light or laser light of selected frequencies.

Lung cell, DNA

is stained in blue
and cytoplasma
of cell in green.

24 dyed Chromosomes!
Each chromosome is
labeled in characteristic
color
 DNA Sequencing Techniques
Based on biochemical copying and multiplying methods
DNA can be deciphered by sequencing techniques which
determine the actual order of the DNA base A,C,G, and T
that make up the gene.

50

Ultimate goal is the mapping of the human Genom – the

entire information distributed over the 24 chromosomes
(22 autosomes, 2 sex chromosomes), with about 3 billion
base pairs (A-T, C-G). Each human chromosome contains
about 100-300 Mb.
 Sequencing Markers

Each base is tagged with different

colored dye, A (green), G (yellow), C
(blue), T (red). Electric field (gel
electrophoresis) separates dyes forming
colored bands. Laser light causes
fluorescence when dye passes triggering
a signal in color sensitive detector
Sequencing Counting
Since base form always fixed
pairs A-T, C-G, it is sufficient
to count along one strand of
DNA helix only

T G T T C G T C etc.
 Three types of DNA ...
X & Y chromosome

Nuclear DNA (blue print of body structure...)

inherited by cell division from parents

Y chromosome DNA (determines the male sex)

inherited from father to son
(male XY chromosome, female XX chromosome)

Mitochondrial DNA (outside the cell nucleus)

inherited from mother to children

Mitochondrial DNA & the Y chromosome DNA

sequencing provides new key for Anthropology!
 Population Genetics
Statistical approach to link changes in gene structure to history of a population

Gene structure can change randomly

during replication or by chemical or
radiation impact. The causes a change
in base sequence ⇒ Mutation. Mutation
can be a replacement of a base or base
addition/deletion. Only a mutation in
cells associated with reproduction is
transmitted to the descendants. The
mutated gene is called allele and is
passed on to descending generation.

Polymorphism means that genes differ

by more than 1 allele in their sequence.

The assumption is that mutation occurs

statistically at a constant rate with time.
 Genetic Markers
Genetic Markers are used to map mutation rate and provide time scale.
Short Tandem Repeats - or STRs: e.g. GATA GATA GATA mutation
may add or delete one of the stutters. Good for genealogy research!

1
RSTR ≈
500 generations
1 1
25 RSTR ≈ ≈
20 generations 500 y

Single Nucleotide Polymorphism – SNP: GAATCAT mutates to GAATTAT

10 −6 SNP
RSNP ≈ ≈ 2.5 ⋅10 −5 SNP / y
1generation
10 SNP ≡ 400 000 y
 Genetic Distances
Genetic distances are statistical units to determine the genetic
differences between populations.

d=
( x − y)
2 d: frequency correlation
x: frequency for one allele in population 1
2 P ⋅ (1 − P ) y: frequency for one allele in population 2
P: mean gene frequency for all populations

Correlation with evolutionary time: t

−t
d = 1− e 2N
N: effective population size
D: genetic distance
D = − log(1 − d ) =
t
2N
Genetics and Language