Not having the slightest idea about my
lineage beyond my great-grandfather, I was clueless about my roots, and not
wearing a Syed or Mughal hat did not help matters either. Whatever documentary
records existed, were left behind in the mayhem of Partition in 1947, when my
parents’ families migrated from Jalandhar in Indian Punjab. All that remained were stories,
happily twisted by the bards and passed down the generations. Some years ago, I
heard of DNA tests being used for genealogy, and given my high school studies
in the pre-medical stream – albeit four decades ago – I could faintly figure
out the basics. I quickly caught up with the latest in the field of ‘population
genetics’ through two very useful books for the layperson: The Journey of Man by Spencer Wells and Seven Daughters of Eve by Bryan Sykes. The former explains the
development and world-wide spread of male lineages while the latter discusses the
female lineages in Europe . As I finished the
books, I became sufficiently enthused to order DNA tests through the Internet.
This entailed an inside-the-cheek scrape with sterilised cotton buds sent by
the testing company; the cotton buds carrying the DNA sample were returned
through courier. Six weeks later, as promised, I received the report with about
as much anxiety as on a final exam result announcement!
My Patriline
My patriline (father, father’s father … and so on) was determined through
what is known as a Y-Chromosome DNA test. The patriline was found to belong to
Haplogroup (unique group) R2, one of several hundred male groups and sub-groups
discovered so far. The group
originated in northern Pakistan about 26,000 years ago when one of its members
underwent a mutation (M-479) on his Y-Chromosome. This mutation marked him as different from
his Haplogroup R ancestors (‘R’ having originated 30,000 years ago). My DNA
test revealed the presence of the Haplogroup R2 defining marker M-479, and the sub-clan R2a marker M-124.
The timeframe as to when the defining mutation took place is determined by noting
the number of markers present, each mutation occurring on an average every 5,000
years. With five mutation markers identified on my Y-DNA prior to M-479 (viz,
M207, M45, M9, M89, and M168), the age of my Haplogroup R2 turns out to be
26,000 years.
The place of origin of the mutation can be determined by noting in which part of the world maximum variants of a particular haplogroup exist; this is because longer the haplogroup has been around, more time for varieties to crop up. In case of R2, the maximum variation exists in the region of northern Pakistan and Tajikistan, implying that R2 people have existed for the longest period in that region.
R2 people eventually left the mountainous north, with nine out of every ten men gradually
moving to the fertile Indus and Ganges river valleys of South
Asia , where this group’s prevalence today stands at around 9% of
the male population. In Pakistan, 7% of all males are of R2 lineage. An unusually high R2 spike at 37% has been observed amongst the Burusho-speaking males from Hunza, albeit from a small sample population. Haplogroup
R2 is responsible for one of the three earliest large scale population
dispersals into South Asia, and the R2 people can vie for the title of ‘sons-of-the-soil’
along with those of Y-Chromosome Haplogroups H and L.
While 90% of individuals belonging to Haplogroup
R2 are present in South Asia, the remainder are found in Central Asia,
Anatolia, and the Caucasus. Outside of
South Asia, the frequency breakdown of Haplogroup R2 within their respective population
groups is as follows: Kurds 10%, Tajiks 6%, Georgians 4%, Uyghurs 4%, Uzbeks
3%, Armenians 2%, Azerbaijanis 2%, Kazakhs 2%, Kyrgyz 2% and Turks 2%. A few
population groups show a disproportionately high incidence of R2; these include
Sinte Roma 53%, Bartangi Tajiks 17%, and Chechens 16%.
My Haplogroup R2 also conveys a lot more about my lineage in a
roundabout way. It tells me that, were I to claim holy Arab lineage (with surnames
like Abbasi, Ansari, Farooqui, Hashmi, Qureshi, Siddiqui, Syed, Usmani, etc) it would be bogus,
because virtually all Arabs of the peninsula belong to the male Haplogroups J1
and J2, and some I and G. Similarly, any pretensions about my being an imperial
Mongol (with surnames like Baig, Barlas, Changezi, Chughtai, Mirza, Mughal, etc) would be unfounded
because Mongols belong to Haplogroup C2. So with no regal or sacred surname
embellishing our family, it is likely that our paternal ancestors moved into
South Asia, and settled down as simple farmers in the Indo-Gangetic plains; they could well be the precursors of the Harappans, I'd like to imagine. The presence of R2 deep down in Sri Lanka,
South India and Bangladesh points to these early migrations, which continued over a long timespan. Much later, the R2 men were joined by R1a
pastoral nomads of the Central Asian steppes, who started to migrate around the time
the Harappan Civilisation started to 'de-urbanise' around 1900 BC; today, R1a presence is more pronounced in Pakistan
and Northern India.
It would be so much fun to retrace the route of prehistoric
migrations of my R2 ancestors, but for the present there are no clear clues. If
I were to join the dots between centres of present day R2 concentrations in
South Central Asia, I would see myself travelling through Dushanbe, Kabul, Hunza, and Peshawar, and then debouching onto the Punjab plains,
terminating my journey at Jalandhar.
My Matriline
My matriline (mother, mother’s mother …
and so on) was determined through what is known as a mitochondrial DNA
test. The matriline was found to belong
to Haplogroup J, one of several hundred female groups and sub-groups discovered
so far. Haplogroup J originated 45,000 years ago when a mutation took
place in the DNA of a woman who lived in the Anatolian-Caucasus region. The mutation left a tell-tale signature in her
mitochondrial DNA that is carried by all of her female descendants to this day.
Thus, all of them can be identified by the J ‘badge’.
Further mutations took place on
the J line, which can be identified as J1a1 (27,000 years ago), J2a (19,000 years
ago), J2b2 (16,000 years ago), etc. Each of these mutations took place in the
DNA of women who can be termed as the ‘first ladies’ of their sub-clans. Their
identity endures almost as a bar code in the ‘J’ women of today. My maternal
sub-clan is J2b2.
Haplogroup J is associated
with the spread of farming and herding in Europe during the Neolithic Era
(8,000-10,000 years ago). All other West Eurasian origin haplogroups were
previously given to hunting and gathering.
mtDNA Haplogroup J2 Migration Map |
In Pakistan, where West
Eurasian lineages occur at frequencies of up to 50% in some ethno-linguistic
groups, J1 averages around 5%, while J2 occurrence is very rare. Intriguingly,
however, it is found amongst 9% of Kalash women.
It is also likely that some of
my J2 ancestral women (along with their men, of course) migrated across the
Caucasus on to the steppes north of
Caspian and Black Seas, which was the heartland of R1a males. While R1a men are mostly found in East Europe, they also swung
east and migrated into South Asia as the Vedic Aryans, starting around 2000
BC. My mother’s patriline of R1a attests to this occurrence. So that is how a
few J2 women (along with their R1a men) ended their sojourn in what is now
Pakistan. When and where a R2 man from
my father’s side married the first ‘outsider’ J2 woman from my mother’s side
will, perhaps, remain an enduring mystery.
My Ethnic Origins
The patriline and matriline
tests look at a very specific and narrow segment of a person’s ancestry by
testing for only Y-Chromosome and mtDNA respectively. In each generation, only one person is of
interest. Five generations mean just
five patrilineal or matrilineal ancestors (eg, father, grandfather, great
grandfather, G-G-grandfather, G-G-G-grandfather). Thus, it can be seen that
these two tests do not provide a comprehensive picture of one’s ethnicity, and are
only meant to check for specific lineages.
The ethnic origins test looks
at all 22 pairs of autosomal chromosomes. Thus, the
complete genetic contribution of every generation is available. With every
generation, the contributors double in number, so the genetic material for
testing is vast. As an example, the fifth generation has 32
ancestors; tenth generation would have 1,024 ancestors! Theoretically speaking,
tests are not limited by how far back can testing be done, so one can actually
check for one’s Neanderthal great-great-great grand uncles and aunties as well!
I took an ethnic origins test
to determine my ethnic composition. The results were a little surprising, but
when looked at in light of my patrilineal and matrilineal origins, things did
fall in place.
I am 77% South Asian, 13% West
Asian, 6% Central Asian, 2% Irish-Scottish-Welsh and 2% Balkan. My patrilineal and matrilineal results provide clear clues in
understanding these ethnic origins. The first three ethnicities are quite
easy to figure out as my father’s side moved to South Asia from Central Asia, and
my mother’s side moved to South Asia from West Asia (Anatolia and Caucasus region). The latter two ethnicities reflect those West
Asian cousins who migrated west, and ended up in Northern and Southern Europe
instead of turning east for South Asia. In other words, we all shared a common
ancestor a few millennia ago.
The ethnic origins results can
be uploaded to third party ancestry sites for free, and allow a ‘second
opinion’ on the raw results. I have done that, and generally, the ethnic
origins are quite in agreement. Slight variations are there because different
testing companies follow different testing protocols, and also, the
interpretation of various geographical areas like Central Asia and West Asia is
different.
The only challenge that
remains for me is to discover definite migration routes followed by my
ancestors into South Asia from their far-off places of origins in West Asia and
Central Asia. As the data base of tested population groups expands, joining the
dots is bound to become more precise. Once that happens, I would have truly
come home!
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GLOSSARY OF TERMS
Chromosome – Structure found in the nucleus of a cell, which contain the genes. Humans have 23 pairs of chromosomes (22 pairs of autosomes and two sex chromosomes).
DNA (DeoxyriboNucleic Acid) – Known as the structure of heredity, the DNA is a chemical consisting of a sequence of hundreds of millions of nucleotides found in the nucleus of cells and that contains the genetic information about an individual; DNA is shaped like a double-stranded helix.
Gene – A gene is the basic physical and functional unit of heredity. Genes, which are made up of DNA, act as instructions to make molecules called proteins. A complete set of genetic instructions is called a Genome.
Haplogroup – A haplogroup is a genetic population group of people who share a common ancestor on the patrline or matriline. Haplogroups are assigned letters of the alphabet, and sub-groups consist of additional number and letter combinations.
Mutation – An inheritable change that may occur in a gene or in a chromosome, and may take the form of a chemical rearrangement, or a partial loss or gain of genetic material.
Mitochondrial DNA (mtDNA) – It is the DNA located in cellular mitochondria that convert chemical energy from food into a form that cells can use. mtDNA is inherited solely from the mother. mtDNA is a powerful tool for tracking ancestry through females, and has been used in this role to track the ancestry back hundreds of generations.
Nucleotides – These are the alphabets of DNA. There are four of them: adenine (A), thymine (T), guanine (G) and cytosine (C). They always go by pairs, A with T, and G with C. Such pairs are called "base pairs". The 46 chromosomes of human DNA are composed of a total of 3 billion base pairs. The Y-chromosome possesses 60 million base pairs, against 153 million for the X chromosome. mtDNA consists of only 16,569 base pairs.
Y chromosome – One of the two sex chromosomes, X and Y. The Y chromosome passes down from father to son. Females do not receive it. Since the Y chromosome goes down the paternal line, it is valuable for genealogy studies, since in general it follows a surname line.
_________________________
GLOSSARY OF TERMS
Chromosome – Structure found in the nucleus of a cell, which contain the genes. Humans have 23 pairs of chromosomes (22 pairs of autosomes and two sex chromosomes).
DNA (DeoxyriboNucleic Acid) – Known as the structure of heredity, the DNA is a chemical consisting of a sequence of hundreds of millions of nucleotides found in the nucleus of cells and that contains the genetic information about an individual; DNA is shaped like a double-stranded helix.
Gene – A gene is the basic physical and functional unit of heredity. Genes, which are made up of DNA, act as instructions to make molecules called proteins. A complete set of genetic instructions is called a Genome.
Haplogroup – A haplogroup is a genetic population group of people who share a common ancestor on the patrline or matriline. Haplogroups are assigned letters of the alphabet, and sub-groups consist of additional number and letter combinations.
Mutation – An inheritable change that may occur in a gene or in a chromosome, and may take the form of a chemical rearrangement, or a partial loss or gain of genetic material.
Mitochondrial DNA (mtDNA) – It is the DNA located in cellular mitochondria that convert chemical energy from food into a form that cells can use. mtDNA is inherited solely from the mother. mtDNA is a powerful tool for tracking ancestry through females, and has been used in this role to track the ancestry back hundreds of generations.
Nucleotides – These are the alphabets of DNA. There are four of them: adenine (A), thymine (T), guanine (G) and cytosine (C). They always go by pairs, A with T, and G with C. Such pairs are called "base pairs". The 46 chromosomes of human DNA are composed of a total of 3 billion base pairs. The Y-chromosome possesses 60 million base pairs, against 153 million for the X chromosome. mtDNA consists of only 16,569 base pairs.
Y chromosome – One of the two sex chromosomes, X and Y. The Y chromosome passes down from father to son. Females do not receive it. Since the Y chromosome goes down the paternal line, it is valuable for genealogy studies, since in general it follows a surname line.