Genetic Analysis of Jewish Origins
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 Diaspora, 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
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 kinship 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. 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.
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Frequently Asked Questions (FAQ's)
What are the purposes of these studies?
The first goal of this study is to examine the relatedness of Jewish peoples from different parts of the world. Among the Diaspora communities to be studied are Sephardim (from Syria and elsewhere in the Levant), Oriental Jews, and Ashkenazim.
The second goal of this study is to understand the distribution of patrilineal and matrilineal markers at the village level in 1800, 1850 and 1900. These times were chosen because many contemporary Jews can recall the names and places of residence for 4-5 generations, i.e. to the late 18th and early 19th centuries. Records still exist that can provide confirmation for family oral histories.
The purpose of this study is NOT to determine:
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.
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Who can participate?
Individuals who can reliably trace their Jewish heritage back several generations can participate. Ashkenazi (European) Jews need to know 4 generations back, whereas Sephardic (Middle Eastern and Spanish) Jews need to know only 3 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.
Top of Page
What does participating involve?
Participation will include completing a brief questionnaire that will provide names and places of birth and residence for 4-5 generations of the members' families. Special attention will be paid to matrilineal and patrilineal lines of inheritance. In addition, participation will include providing a mouthwash sample that can be used for extracting DNA from the cells of the cheek pouch. This DNA will be analyzed for normal variants of known Y chromosomal and mitochondrial markers using contemporary 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.
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How is the DNA extracted?
A simple mouthwash sample is used for extracting DNA from the cells of the cheek.
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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." Likewise, samples from this study will not be made available to other geneticists for identifying genes that cause human diseases.
Top of Page
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 importantly, 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.
Top of Page
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 1: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.
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)
Figure 2: Geographic distribution of Y chromosomal haplotypes in central and Eastern Europe, circa 1850. These results were obtained from DNA analysis of members of Jewish Genealogical Societies who provided 3-4 generation family histories. The work was done by Jack Niemiec, Menachem Wiener, Alexander Taussig and Calvin Huang.
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Investigators
The principal investigators of this study are Drs. Harry Ostrer and Michael Hammer, who are both pioneers in the use of contemporary 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 Leadership Council about fairness in the use of genetic information.
Dr. Hammer is Director of the Laboratory of Molecular Systematics at the University of Arizona in Tucson, where in addition to supervising his research program, he trains students and colleagues in the use of contemporary methods for the genetic analysis of human populations.
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Procedures for Participation
If you have any questions, call or email:
Harry Ostrer, M.D.
Human Genetics Program
NYU School of Medicine
550 First Avenue, MSB 136
New York, NY 10016
Tel: 212 263-7596
Fax: 212 263-7590
Email: harry.ostrer@med.nyu.edu
Michael Hammer, Ph.D.
Laboratory of Molecular Systematics and Evolution, Department of Ecology and Evolutionary Biology Biosciences West, Room 239
University of ArizonaTucson, AZ 85721
Tel: (520) 621-9828
Fax: (520) 626-8050
Email: mhammer@U.Arizona.EDU
Links
Top of Page
This site was designed by Jordan Levine and
Salomon Blutreich.
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 Diaspora, 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
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 kinship 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. 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.
Top of Page
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 first goal of this study is to examine the relatedness of Jewish peoples from different parts of the world. Among the Diaspora communities to be studied are Sephardim (from Syria and elsewhere in the Levant), Oriental Jews, and Ashkenazim.
The second goal of this study is to understand the distribution of patrilineal and matrilineal markers at the village level in 1800, 1850 and 1900. These times were chosen because many contemporary Jews can recall the names and places of residence for 4-5 generations, i.e. to the late 18th and early 19th centuries. Records still exist that can provide confirmation for family oral histories.
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.
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.
Top of Page
Who can participate?
Individuals who can reliably trace their Jewish heritage back several generations can participate. Ashkenazi (European) Jews need to know 4 generations back, whereas Sephardic (Middle Eastern and Spanish) Jews need to know only 3 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.
Top of Page
What does participating involve?
Participation will include completing a brief questionnaire that will provide names and places of birth and residence for 4-5 generations of the members' families. Special attention will be paid to matrilineal and patrilineal lines of inheritance. In addition, participation will include providing a mouthwash sample that can be used for extracting DNA from the cells of the cheek pouch. This DNA will be analyzed for normal variants of known Y chromosomal and mitochondrial markers using contemporary 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.
Top of Page
How is the DNA extracted?
A simple mouthwash sample is used for extracting DNA from the cells of the cheek.
Top of Page
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." Likewise, samples from this study will not be made available to other geneticists for identifying genes that cause human diseases.
Top of Page
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 importantly, 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.
Top of Page
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 1: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.
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)
Figure 2: Geographic distribution of Y chromosomal haplotypes in central and Eastern Europe, circa 1850. These results were obtained from DNA analysis of members of Jewish Genealogical Societies who provided 3-4 generation family histories. The work was done by Jack Niemiec, Menachem Wiener, Alexander Taussig and Calvin Huang.
Top of Page
Investigators
The principal investigators of this study are Drs. Harry Ostrer and Michael Hammer, who are both pioneers in the use of contemporary 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 Leadership Council about fairness in the use of genetic information.
Dr. Hammer is Director of the Laboratory of Molecular Systematics at the University of Arizona in Tucson, where in addition to supervising his research program, he trains students and colleagues in the use of contemporary methods for the genetic analysis of human populations.
Top of Page
Procedures for Participation
- Please fil out the attached questionnaire and consent form. You may make copies of these for your own records.
- Do not eat anything for the hour before your plan to collect a mouthwash sample.
- Check the tube to make sure that you have written your name correctly. Loosen the cap so that you are ready for collection.
- Rinse your mouth with approximately half of the bottle of Scope mouthwash. Swish for thirty seconds. During that time, you may rub the inside of your cheek against your tongue and teeth. When finished, spit into the tube and tighten the cap securely.
- Repack the mailing box. Put on the new mailing label and stamps and drop into the mailbox.
If you have any questions, call or email:
Harry Ostrer, M.D.
Human Genetics Program
NYU School of Medicine
550 First Avenue, MSB 136
New York, NY 10016
Tel: 212 263-7596
Fax: 212 263-7590
Email: harry.ostrer@med.nyu.edu
Michael Hammer, Ph.D.
Laboratory of Molecular Systematics and Evolution, Department of Ecology and Evolutionary Biology Biosciences West, Room 239
University of ArizonaTucson, AZ 85721
Tel: (520) 621-9828
Fax: (520) 626-8050
Email: mhammer@U.Arizona.EDU
Links
Top of Page
This site was designed by Jordan Levine and
Salomon Blutreich.
