4.1 Discussion of Results
4.2.1 Y-chromosomal Analysis
4.2.2 Mitochondrial DNA Analysis
Chapter V : Summary and Conclusion
4.3 Summary and Conclusion
Terms
Bibliography
LIST OF FIGURES
Fig 1 : Human Mitochondrial DNA
Fig 2 : Map of human haplotype migration, according to mitochondrial DNA
Fig 3 : mt DNA haplogroup distribution of world
Fig 4 : Structure of Y chromosome
Fig 5: Major Haplogroup Frequencies Of the World
Fig 6: The different transmission paths of genetic material. Y-chromosomes
exclusively paternal, mitochondrial DNA entirely maternal.
Fig 7: Out-of-Africa model
Fig 8: People who contributed
Fig 9: Vacutainer
Fig 10 : Transfering blood from syringe to vacutainer
Fig11 : MJ Research PCR
Fig 12 : PCR ( Eppendorf and Veriti)
Fig 13: DNA Sequencer
Fig 14: DNA sequencing analysis software
Fig 15: Auto Assembler Software
Fig 16 : aqueous layer, protein layer and solvent layer.
Fig 17 : 2 clear layers of DNA and Chloroform .
Fig 18 : DNA Extracted
Fig 19 : Gel Check of Dilution
Fig 20 : Gel Check of PCR products
Fig 21 Map: Site of sample collection
Fig 22 : Consent Form
Table 1
Fig 23 : Frequency Chart of Y haplogroup
Table 2
Fig 24 : Frequency Distribution of mt DNA
Figure 25. Worldwide frequency distribution of Haplogroup O.
Figure 26. Relative frequency distribution of the four main subclades of
Haplogroup O.
Fig 27: Derived samples derived from M95 primer leads to O2a‐
Haplogroup On Y chromosome phylogenetic tree
Fig 28: Derived samples derived from M82 primer leads to H1‐
Haplogroup On Y chromosome phylogenetic tree
Fig 29 : A‐G Mutaion
Fig 30: Insertion T
Fig 31 : M82 primer haplogroup analysis giving Derived
Fig 32 : M95 primer haplogroup analysis giving Ancestral
Fig 33 : M95 primer haplogroup analysis Giving Derived
LIST OF ABBREVIATIONS
%
-
Percentage
C
-
Degree Celsius
ATP
-
Adenosine 5’-triphosphate
bp
-
base pair(s)
cm
-
centimeter
cpm
-
counts per minute
dATP
-
2’-deoxyadenosine 5’-triphosphate
dCTP
-
2’-deoxycytidine 5’-triphosphate
DDW
-
Double distilled water
dGTP
-
2’-deoxyguanosine 5’-triphosphate
D-loop - The displacement loop
DNA
-
Deoxyribonucleic acid
dNTP
- 2’-deoxynucleotide 5’-triphosphate
ddNTP
- 2’,3’-dideoxynucleotide 5’-triphosphate
dTTP
-
2’-deoxythymidine 5’-triphosphate
EDTA -
Ethylene diamine tetra acetic acid
Et.Br
-
Ethidium bromide
Extn
-
Extension
Figure
-
Figure
g
-
gram
kb
-
kilo base
M
-
molarity
mA
-
milli ampere
mg
-
milligram
min
-
minutes
ml
-
millilitre
mm
-
millimeter
mM
-
millimolar
mtDNA
-
mitochondrial DNA
mtRNA - mitochontrial RNA
rRNA - ribosomal RNA
tRNA - transfer RNA
N
- Normality
nm
- nanometer
NaOH
-
sodium hydroxide
ng
- nanogram
OD
-
Optical density
OH - Origin of heavy chain replication OL - The L-strand origin PCR
-
Polymerase chain reaction
pM
- picomole
RNA - ribonucleic acid
rpm.
-
Revolutions
per
minute
SDDW
-
Sterile Double Distilled water
SDS
-
Sodium dodecyl sulphate
Sec.
-
Seconds
SNPs - Single Nucleotide Polymorphisms
SRY
-
Sex-Determining Region On Y Chromosome
SSC
-
Sodium
saline
citrate
STR
-
Short
Tandem
Repeat
TAE
-
Tris-Acetate-EDTA
TE
- Tris-EDTA
Tris
-
Tris
( ecogniz methyl) amino methane
TMRCA - Time to the most recent common ancestor
U
-
unit
UEP - unique event polymorphism
UV
- Ultraviolet
V
- Volts
v/v
- Volume/Volume
w/v
- Weight/Volume
g
- Microgram
l
- Microlitre
MW -
Micro molar Watts
YAP
-
Y- Alu polymorphism
YCC - Y Chromosome Consortium
ABSTRACT
India is a conglomeration of various ethnicities with 4693 communities, 325
languages, 25 scripts and numerous endogamous groups. It is a home of several
tribal pockets, which represents different genetic isolates and thus provides unique wealth to understand human evolution. These autochthonous tribal populations
reveal striking diversities in terms of language, marriage practices as well as in
their genetic architecture. The origin and settlement of the Indian people still
remain intrigues for the scientist studying the impact of the past and modern
migration of the genetic diversity and structure of contemporary populations.
Indian populations are stratified as tribe, caste and religious community.
Endogamy has probably been a major reason for genetic diversification among the
people of this region. Taking geographical and ethnic diversity into account and to answer the question of origin and evolution of maternal and paternal lineages
of Indian population .Above 400 base pairs of the HVR-1 region and selected
coding regions of the mitochondrial DNA (mtDNA) and Y chromosome markers
in 102 individuals of Bhumij, an Austro-Asiatic tribe of Jharkhand, was
analyzed and compared with the data available from the Indian subcontinent.
Based on the mutations observed in the HVR -1 and selected coding region of
mitochondrial DNA, haplogroups were assigned to each of the individual. It was
observed that most of the individuals of Bhumij tribal population were falling in
Indian specific macro haplogroup M, displaying the array of South Asian specific
lineages. On the other hand, Y chromosomal analysis is showing 70% percentage
of individuals falling into O2a-M95 haplogroup, found frequently among Austro-
Asiatic. Moreover, it is evident that our investigation of the small population is a snapshot with respect to the peopling of the Indian subcontinent. In future,
detailed phylogeographic and phylogenetic analysis of more tribal population can
reveal the detailed account of maternal and paternal lineages as well as genetic
affinity of the Indian population.
Chapter 1