genetic genealogy

I am participating in some projects that combine my interest in genealogy
and my academic background in molecular biology and genetics.

I am involved in projects involved with the tracing of lineages by following
the inheritance of markers on two types of DNA-bearing regions,
the non-recombining main part of the "Y" chromosome ("Y-line") and some
extra-nuclear DNA found in organelles called mitochondria (mtDNA). One of
the studies I am participating in is National Geographic's Genographic Project.

The Y-line DNA is inherited only by males and only from their fathers.
Most of the DNA in the Y-chromosome is not changed from one generation
to the next and only accumulates changes at a gradual rate due to mutations.
This is evolution at its most basic level and it creates markers that can be
followed through lines in families. For example, my first 12 markers tested
show that my Y-line is exactly the "Nordic signature," indicating descent from
Viking populations. With 13 more markers my lineage was narrowed down
to one surname family, in fact, to one individual who was born in 1594.

mtDNA is inherited by all children from their mothers. Males do not pass
mitochondria to their children, therefore the mtDNA can be traced through
maternal lineages only. I inherited my mtDNA from my mother, and she
inherited hers from her mother and so on.

my Y-chromosome Nordic signature (haplogroup I)
common in Sweden, Norway, Denmark, Finland, Iceland, far-Northern Germany and parts of England

My full 37-marker set shows that I am descended from a man named Edmund Rice who was born in 1594
in England. Edmund and I most likely got our Viking signature from our ancestors who were Scandinavian Vikings.
My first 25 markers exactly match Edmund's reconstructed genotype and my full 37 marker set differs from his by
a genetic distance of only 2, thus indicating a close relationship.
All people tested who have results most similar to mine have the surname Rice*.

The table below shows that my markers fit in what is called subgroup I1a-N, the
Norse subgroup of Haplogroup I
most common in Sweden, Finland, Norway, Denmark and, to a lesser extent, Denmark

DYS marker	19	390	385a	385b	391	392	393	389i	389ii	388	462	464a	464b	464c	464d
I1a-N Norse	14	23	14	14	10	11	13	12	28	14	13	12	14	15	16
mine exact	14	23	14	14	10	11	13	12	28	14	na	12	14	15	16

an example of the markers from a male from a related subgroup (haplogroup I1a1)
also associated with Nordic lineages

note that this 12-marker set has one less repeat at locus 390, two more repeats at
locus 19 (394) and one less at locus 385a, these differences indicate that this lineage
diverged from mine a long time ago

Robert Royce (1600's Connecticut) reconstructed haplotype from many known descendants
very-distantly related (possibly haplogroup G)
a widespread group in Europe and Asia

this lineage is clearly not close to mine with numbers of repeats differing
in 8 of these first 12 loci, several of these by 2 or more repeats

I used to wonder if I was related to the very large number of Robert Royce descendants,
the DNA results tell me that my surname does not come from Robert Royce (1600's CT).

Whereas Y-DNA is often useful for for determining relatively close ancestral connections
along paternal lineages as well as farther back ("deeper") ones too, mtDNA is mostly
useful for establishing very deep ancestral connections along maternal lines. My mtDNA
lineage is haplogroup H, the Helena haplogroup. It is believed that haplogroup H first
originated 28,000 to 30,000 years ago in the Near East and then spread through Europe
about 20,000 years ago.

My mtDNA testing showed that my mtDNA varied from the Cambridge
Reference Sequence by three common mutations:
1. at 16519 I had a point mutation of T to C
2. at 263 I had a point mutation of A to G
3. at 315.1 I had a C insertion mutation

The A, T, C and G stand for the four "bases" that are the parts of the
structure of DNA that may encode the instructions for making organisms.

My mtDNA sub-haplogroup designation is H1*. Almost half of people in and
from Europe are in mtDNA haplogroup H. My sub-haplogroup H1* is primarily
from England, Ireland and Germany.

locus	393	390	19(394)	391	385a	385b	426	388	439	389-1	392	389-2
alleles	13	23	14	10	14	14	11	14	11	12	11	28