Genetic Analysis of Jewish Origins
http://www.med.nyu.edu/pediatrics/genetics/research/jewish_origins.html#q6
Did you ever wonder if 2000 years of recorded history could be
preserved in the genetic record? Recent work from genetics labs has
validated the Biblical record of a Semitic people who chose a Jewish
way of life several thousand years ago.
These observations are the biological equivalent to the discovery of
the Dead Sea scrolls, suggesting that despite 2000 years of Dias****a,
the relatedness of the Jews of Eastern European ("Ashkenazi"), North
African ("Sephardic") and Middle Eastern ("Oriental") origin can be
demonstrated by genetic marker analysis.
* Background
* FAQ's
* Haplotypes
* Studies to Date
* Investigators
* Procedures for Participation
Background
In the course of conducting research in this area, a few surprises
have been found. The existence of a priestly line of males ("Kohanim")
is shown as a distinctive set of genetic markers on the father-to-son
transmitted Y chromosome. Limited variation of these markers among
Kohanim males is compatible with a 3300-year-old origin in a single
male or group of related males, possibly from the family of Aaron.
These Y-chromosome genetic markers can even be found among the Lemba,
a South African tribal group claiming patrilineal kin****p with the
Jews of Yemen.
As judged by the shared mutations for certain genetic diseases,
including Gaucher disease, Connexin 26-based deafness and familial
Mediterranean fever, considerable historical contact can be
demonstrated between Ashkenazi Jews and the Christians of Spain, Italy
and other Mediterranean countries. The legacy of the Spanish
Inquisition can be found in Latin American populations. Mutations of
Jewish origin for the rare genetic conditions of Laron dwarfism and
Bloom syndrome have been found among Christian peoples residing in
remote communities in Latin America.
The next step in Jewish genetic demography will be to understand the
patterns of Jewish migration that formed the historical communities
and the pattern of genetic variation that resulted. Clearly most of
these communities no longer exist, but their genetic structure can be
discerned by studying the DNA of their descendants. In genetic terms,
this will mean studying the DNA of the male-specific Y chromosome to
understand the father's father's ("patrilineal") line and the DNA of
the mitochondria to understand the mother's mother's ("matrilineal")
line.
It will also mean showing the pattern of variation on other
chromosomes.
Frequently Asked Questions (FAQ's)
* What are the purposes of these studies?
* Who can participate?
* What does participating involve?
* How is the DNA extracted?
* How will DNA samples from this study be handled?
* Why now?
What are the purposes of these studies?
The goal of this study is to examine the relatedness of Jewish peoples
from different parts of the world. Among the Dias****a communities to
be studied are Sephardim (from Syria and elsewhere in the Levant),
Oriental Jews, and Ashkenazim.
The purpose of this study is NOT to determine:
* If participants are Jewish
* Whether they are a Kohan, Levi, or Israelite
* If they are related to someone else
For those who do wish to seek this information, please see the links
at the end of this page.
This study will not delve into analysis of genetic markers that might
increase an individual's risk for developing certain common diseases,
such as breast or ovarian cancer, nor for having children with
debilitating or lethal disease, such as Tay-Sachs. Individuals who
seek to learn about these risks will be referred to clinical genetics
centers that are qualified to provide this information.
Who can participate?
Individuals who can reliably trace their Jewish heritage back several
generations can participate. Ashkenazi (European) Jews need to know
four generations back, whereas Sephardic (Middle Eastern and Spanish)
Jews need to know only three generations back.
In addition to knowing the genealogy of your family, you must also
know the birthplaces of your family members on your patrilineal and
matrilineal lines. Knowledge of Kohanim, Leviites, or Israelite
ancestry as well as migrations and places lived during your ancestors'
lifetime can also be helpful, although it is not required.
What does participating involve?
Participation will include completing a brief questionnaire that will
provide names and places of birth and residence for four to five
generations of the members' families. Special attention will be paid
to matrilineal and patrilineal lines of inheritance.
In addition, participation will include providing a blood sample that
can be used for extracting DNA. This DNA will be analyzed for normal
variants of known Y chromosomal and mitochondrial and other genetic
markers using contem****ary techniques.
Special emphasis will be placed on the prevalence of these markers
with specific locations on the globe and the differences between the
markers over time. We will use markers in the DNA to plot convergence
time; i.e., the amount of time since the different lines descended
from a common ancestor. This will allow us to find the period of
separation between the Ashkenazi and Sephardic groups as well as
finding a common ancestor to the Jews.
How is the DNA extracted?
A simple blood sample is used for extracting DNA.
How will DNA samples from this study be handled?
DNA samples from this study will be coded and maintained in a locked
facility; hence, there is no possibility of them falling into the
"wrong-hands."
Why now?
The window for studying Jewish history from the genetic record is
closing as rapid changes occur in Jewish demography. The rate of
population growth is relatively low. Through migration, Jews have
disappeared from many parts of the world and will continue to do so
for the foreseeable future. Most im****tantly, with each new
generation, more is lost of the oral history of familial origins;
hence, the golden age for the study of Jewish population genetics is
now.
Haplotypes
A haplotype is a set of closely linked genetic markers present on one
chromosome, which tend to be inherited together.
Med is the most common haplotype among Jewish peoples. It is believed
to have originated in the Middle East because the greatest
concentrations of the Med haplotype are found among the people who
live there today. It is shared by other people around the
Mediterranean Basin (hence, the name). It may have been spread by
farmers moving to new lands, by sea-going traders or both.
4s is the second most frequent haplotype in Jewish populations. It may
have originated in East Africa and have been spread north along the
Nile before entering Palestine.
Several variants of haplotype 1 (1U and 1C) may have originated in
Central Asia and then spread into the Middle East.
The geographic origins of other haplotypes are still being discovered.
Studies to Date
Figure: Relatedness of Jewish and non-Jewish populations based on Y
chromosomal haplotypes. Virtually all Jews came from the Middle East
as evidenced by the clustering of their Y chromosomal haplotypes
between Jewish groups and between Jews and non-Jewish Middle
Easterners.
genetic evidence
(IMAGE)
Enlarge image in new window
This is a plot of relatedness of populations based on Y-chromosome
haplotype data. Solid triangles represent Jewish populations, squares
represent Middle Eastern Populations, and open circles represent all
other populations. The samples shown in this chart were taken from
Ashkenazim (Ash), Roman Jews (Rom), North African Jews (Naf), Near
Eastern Jews (Nea), Kurdish Jews (Kur), Yemenite Jews (Yem), Ethiopian
Jews (EtJ), Palestinians (Pal), Syrians (Syr), Lebanese (Leb), Israeli
Druze (Dru), Saudi Arabians (Sar), Russians (Rus), British (Bri),
Germans (Ger), Austrians (Aus), Italians (Ita), Spanish (Spa), Greeks
(Gre), Tunisians Tun), Egyptians (Egy), Ethiopians (Eth), Gambians
(Gam), Biaka (Bia), Bagandans (Bag), San (San), Zulu (Zul), Turks
(Tur), and Lemba (Lem). (Hammer MF Jewish and Middle Eastern non-
Jewish populations share a common pool of Y-chromosome biallelic
haplotypes. Proc Natl Acad Sci U S A. 2000 Jun 6; 97(12): 6769-74)
Investigator
The principal investigator of this study is Dr. Harry Ostrer, who is a
pioneer in the use of contem****ary genetic techniques for the analysis
of Jewish populations.
Dr. Ostrer is Director of the Human Genetics Program at the New York
University School of Medicine, where in addition to supervising his
research program, he oversees an active clinical genetics unit that
provides genetic evaluation, testing and counseling. He has been a
consultant to the National Institutes of Health, the New York State
Department of Health, the New York State Bar Association, the Society
of Actuaries, and the Jewish Leader****p Council about fairness in the
use of genetic information.
Procedures for Participation
If you would like to participate or have any questions, please call or
email
Harry Ostrer, M.D.
Human Genetics Program
NYU School of Medicine
550 First Avenue, MSB 136
New York, NY 10016
Phone: 212-263-7596
Fax: 212-263-7590
Links
* Nature Reviews Genetics
* Jewish Genealogical Societies
* Family Tree DNA
Human Genetics Program | 550 First Avenue, Room MSB 136 | New York,
NY 10016 | 212-263-5746
|
