The document discusses population genetics research conducted on various ethnic groups from Pakistan and Central Asia. Three key studies are summarized: 1) A study of mitochondrial DNA from gypsy populations in Pakistan found they were genetically distinct from other ethnic groups, reflecting their Indian origins. 2) A study of Hazara and Balochi Y-chromosomes found that Hazaras have genetic origins in Kazakhstan and Mongolia, supporting historical accounts. 3) A study sequencing mitochondrial genomes of people from the Pamir Mountains and surrounding areas found the high-altitude populations are genetically admixed, providing an opportunity to study selection on mtDNA with admixture.

1. Presentation on
Population Genetics,
Why need to study population
genetics? &
Application of population genetics.
Submitted by:
Hassan Yousaf
Roll no: 20204022-014
Department: M.S biological
sciences USKT
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Submitted to:
Dr. Javed Muhammad Iqbal
Assistant Prof. at university
of Sialkot

2. POPULATION GENETICS:
The science of genetics studied at the population level is
known as population genetics.
About microevolution (evolution within species)
It is study of genetic structure of population and changes that
occur from generation to generation.
 Genetic structure include study of gene and genotypic frequency
within the population and prediction of these frequencies in their
progeny.
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3. What is
population
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In general, population refers to group of individual of a species* living at
a place and at a time.
In population genetics , population is defined as a group of
interbreeding individual sharing a common gene pool.
The gene pool refers to sum total of a genes in population.

4. Population genetic isfundamentally concern with amount of genetic
variation within population along with the effect of various forces over
time. various forces like..
 Mutation
 Migration
 Random genetic drift
The main objective of population genetics is trait specific. When the trait show
discontinuous variation and are governed by major genes it is of interest to know
the occurrence of gene and genotypic frequency over time under the influence of
certain forces.
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5. Why need to study population
genetics?
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The knowledge of population genetics is important for number of reasons.
It is thus most important and essential to study and describe a
population in terms of the different types of genotypes(individuals)
existing in a population.
The analysis of the characters of individual organism is very important to
know the nature and function of gene viz. As a unit of
segregation,recombnation,mutataion etc.

6.  Tounderstand about heredity.
The genetic variations in a population are the basic material upon
which the evolutionary forces operate to change a species make up
over time and space.
It is thus of evolutionary significance to know how the total
genotype was evolved, maintain its balance and change over time.
The genotypic changes over generations and the effect of a new
genotype on individual‘s adaptability (effect of gene on fitness) can
be observed from the analysis of population.
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7.  Gypsies are a separate ethnic group living in Pakistan and
some other countries as well, they are mostly known as
“Roma” and untouchables”.
 They have different type of lifestyle as compared to other
common people as they do not settle at one place. They
always keep migrating from one place to another; they
don’t have proper houses
 Historical and linguistic researches made this clear that
they have Indian origin.
 Blood samples were taken from gypsy individuals and
compared with Sindi, balochi and Punjabi individual’s
blood sample
Research on mitochondrial Dna of
Gypsis
(Introduction)

8. In this study, 94 unrelated gypsy samples were analyzed from different areas of
Pakistan and the results were compared with other Pakistani populations which
includes 230 Pathan population samples, 99 Makrani, 25 Balochi, 25 Barauhi, 25
Brusho, 24 Hazara,25 Kalash, 25 Sindhi, 317 Kashmiri and 98 Punjabi samples.
Aim of study

9. Dna was extracted from blood by phenol chloroform method and took
oral and written consent of individuals.
Then sequencing of Dna is done by pcr.
Compare data with mtDna profiler software
Materials and Methods

10. Fst values were analyzed by using statistical tool and results
showed that they were significantly different from all other
ethnic groups.
Results

11. (Role in forensic)
The mutation rate of mtDna is as ten fold higher than that of nuclear DNA.
This property makes it extremely useful for establishing the evolution of
species over many generations through the matrilineal line.
Mitochondrial DNA (mtDna) is a proper tool for the determination of the
origin of populations due to its high evolutionary importance
It is ideally used in special cases where the DNA is degraded or the
source of the sample doesn't contain enough genomic nuclear DNA for
analysis.
Why we use mitochondrial Dna?

12. Hazara population have typical mongolian facial expressions and
they called themselves army of Changez Khan.
Previously the research was conducted but it does not include the
Hazara population.
Y STR’s play an important role in determining the paternity lineage
Genetic Legacy of Hazara and Baloch
Population
(Introduction)

13. A research was conducted in order to study the paternal history of Hazara
population and to investigate the paternal relationship among reference
populations
Aim of study

14. Y STR’s on male chromosomes play an important
role in paternal lineage.
Y-filer plus pcr kit were examined in 260 different
Hazara individuals.
Y haplographs predicted by using haplograph
predicted software.
Materials and methods

15. Amplification Kit marker set provided substantially stronger
evidences that Hazara’s have Kazakh and Mongol origin.
Results

16. The Pamir's, among the world’s highest mountains in Central Asia, are one of
homelands with the most extreme high altitude for several ethnic groups.
we have sequenced the mitochondrial DNA (mtDNA) genomes of 382 individuals
belonging to eight populations from the Pamirs
and the surrounding lowlands in Central Asia.
mitochondrial Dna to uncover
Pamir population
(Introduction)

17. we focus on the highlanders living in the Pamirs,
including three highland Tajik populations and two
highland Kyrgyz populations
objectives

18. We collected the peripheral blood samples of 382
unrelated adult individuals
Genomic DNA was extracted from the blood samples by
using the phenol-chloroform method.
The complete mtDNA genome was amplified by the long-
range PCR protocol to generate two overlapping
amplicons.
The reads mapping and variants calling were carried out
with Ion Torrent Software.
Materials and methods

19. Our results indicate that the Pamir highlanders are
admixed populations. It gives us an opportunity to test
whether admixture can mediate selection on mtDNA in
the Pamir highlanders or not.
Results

20. Any questions?
Thank you