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Medical Genetics Around the World Medical Genetics in Israel J Med Genet: first published as 10.1136/jmg.26.3.179 on 1 March 1989. Downloaded from Medical genetics around the world Journal of Medical Genetics 1989, 26, 179-189 Medical genetics in Israel R M GOODMAN*t, B BONNE-TAMIRt, A ADAMt, R VOSS§**, G BACH§, Y SHILOHt, M BAT-MIRIAM KATZNELSON*t, G BARKAI*t, B GOLDMAN*t, B PADEH*t, J CHEMKE§1I, AND C LEGUMt¶ From *the Institute of Medical Genetics, The Chaim Sheba Hospital; tDepartment of Human Genetics, Sackler School of Medicine, Tel-Aviv University; JtDepartment of Biology, Everyman's University; WDepartment of Human Genetics, Hadassah University Hospital, Hebrew University; IKaplan Hospital, Rehovot; and ¶Ichilov Hospital, Tel-Aviv, Israel. When I was asked to write this article on human specific laws stating whom one can and cannot genetics in Israel, I was pleased to accept the marry. The Babylonian Talmud compiled approxi- challenge, but after pondering the subject for a mately 1500 years ago is an extremely rich source for period of time, I began to see some of the difficulties the description of a number of human genetic mal- in such an undertaking, owing to the great amoufnt formations and syndromes.' For example, various of investigative studies that has taken place in our cranial, facial, and body malformations are men- tioned in Kodashim, tractate Bekhorot 44a, familial country. My major concern was the unintentional copyright. omission of important historical information along epilepsy is described in Nashim, tractate Yevamot with scientific contributions to this broad and 64b, and in the same tractate and page one can find rapidly advancing field. I decided that the best way a report of haemophilia. The testicular feminisation to handle this problem would be to call upon certain syndrome can be recognised from the writing and of my colleagues and ask them to write on the discussion found in Nashim, tractate Ketuboth 10b, development and progress in their special areas. and a clinical description of Marfan's syndrome is mentioned in tractate Bekhorot 45b. Despite all of our combined efforts I am certain that Kodashim, http://jmg.bmj.com/ omissions must have occurred, but we hope that Analysis of the Talmud for genetic malformations understanding will prevail and that time and space and syndromes is in its infancy and in the years to will also be taken into consideration. come such studies should prove most rewarding. As this paper was nearing completion one of our With a long Jewish tradition of critical thinking key contributors, Dr Ruth Voss of the Hadassah about all matters pertaining to life, coupled with the University Hospital of the Hebrew University, newly emerging interest in human genetics, it was suddenly died in a tragic car accident. Because she not surprising that the modern State of Israel, was such an outstanding person as well as a human established in 1948, would find itself actively on September 30, 2021 by guest. Protected cytogeneticist, we would like to dedicate this article engaged in a variety of human genetic studies. The to her blessed memory. main impetus for this initial flourish of activity came from the massive number of Jewish immigrants Historical background arriving in Israel from all parts of the world. Israel immediately became the ideal setting for studying Matters of genetic concern have been an integral genetic similarities and differences among the part of Jewish life dating from the Biblical period. In Jewish people. In addition to investigating genetic the Torah (first five books of Moses) book of polymorphisms among the various Jewish communi- Genesis (chapter 30, lines 32-43) one can find a ties, Israeli physicians and geneticists also found written account of Jacob's breeding experiments themselves absorbed in learning about such in- with his father in law's sheep and goats. In the book herited diseases as familial Mediterranean fever, of Leviticus (chapter 18, lines 6-18) one will find Dubin-Johnson syndrome, G6PD deficiency, thalas- saemia, and phenylketonuria to mention just a few. Although several medical centres and institutions RDeceased. Received for publication 23 September 1988. soon became interested in the practical and inves- Accepted for publication 30 September 1988. tigative aspects of genetic diseases and polymorph- 179 J Med Genet: first published as 10.1136/jmg.26.3.179 on 1 March 1989. Downloaded from 180 R M Goodman et al isms among the Jewish people, two centres in (3) To what extent do the genetic data correlate particular achieved international recognition for with known or surmised histories of the various their pioneering work in these areas. The Hadassah groups? University Hospital and the Hebrew University in (4) What can studies of genealogies, mating Jerusalem under the guidance of the late Professor preferences, and inbreeding patterns tell us about Elizabeth Goldschmidt, and the former Tel- the extent of genetic isolation of Jewish communi- Hashomer Hospital (now the Chaim Sheba Medical ties and the directions of gene flow? Centre) and the Tel-Aviv University under the Over the years, the tools and methods of human inspiration and thinking of the late Professor Chaim population studies have changed considerably. In Sheba became the leading medical genetic centres in the beginning, Israeli geneticists, like their col- Israel. leagues elsewhere, characterised and compared Jewish ethnic groups by using frequencies of genetic Israel and its people markers such as blood groups, serum proteins, isozymes, colour vision deficiencies, taste sensitivity Israel is a very small country, approximately 280 to PTC, finger and palm print analyses, as well as miles (450 km) in length and 110 miles (180 km) at morphological and anthropometric measurements.4 maximum width. The majority of its total popula- While the early studies in the 1950s and 1960s tion of approximately 5 million people is clustered in emphasised the differences rather than the similar- the centre of the country. Seventy-five percent of its ities between the Jewish communities, some of the land is desert. The population can be divided into more recent studies point to a basic genetic similar- Jewish (4.3 million) and non-Jewish (700 000), ity, particularly regarding blood group polymorph- mainly Arab-Moslems. The Jewish population can isms, and to the small contribution of non-Jews to similarly be grouped into three major ethnic the Jewish gene pool. In the 1970s, studies using the groups.2 The oldest are the Oriental Jews (originat- histocompatibility antigens (HLA system) provided ing from the continent of Asia), followed by the new data allowing renewed examination of the Sephardi Jews (originating from countries of the historical-geographical groupings of Jewish exiles.-8copyright. Mediterranean basin), which together comprise Findings indicated elements of a common origin for 53% of the Jewish Israeli population. The youngest most of the major Jewish ethnic groups, as well as an of the groups, the Ashkenazi Jews (originating from absence of substantial gene influx from non-Jewish central and eastern Europe), make up the remaining populations into the Jewish gene pool. Previous 47% of the Jewish population. This almost equal thinking that Jews of any given area tend to distribution between non-Ashkenazi (Oriental plus resemble the non-Jews of that area more closely Sephardi Jews) and Ashkenazi Jews makes the than they do one another was not substantiated by http://jmg.bmj.com/ Israeli scene an ideal place to study all genetic the abundant polymorphic data accumulated, nor by aspects of the Jewish people. the recognition of an increasing number of specific Jewish genetic diseases. Human population genetics Furthermore, multivariate statistical methods such as estimates of genetic distances or cluster The initial stimulus for genetic studies among the analysis, based on a large number of genetic loci, various Jewish ethnic groups in Israel was the supported the contention that not much admixture immigration in the early 1950s of over a million had taken place between European Jews (Ash- on September 30, 2021 by guest. Protected Jewish immigrants making 'aliyah' (literally: coming kenazi) and their gentile neighbours.6 7 9 to Israel from over 100 countries in all continents). Also some Oriental Jews, like those from Iraq, It was soon recognised that frequencies of genetic have genetically far more in common with Ash- diseases differed markedly among the various com- kenazi Jews (central and east European Jews) than munities, an observation which further served as a either group has with the non-Jews among whom catalyst for studying the 'genetic profiles' of these they have lived for centuries. populations.3 4 It therefore seems fitting that this As one might expect, there are also exceptions to report begins with Israeli studies in population this-overall picture of relative Jewish distinctiveness. genetics. The questions asked initially were essen- Jews from Yemen are a case in point; they have a tially those that are being asked today by Israeli genetic make up that is characteristic of the Arabian population geneticists regarding the Jewish people. peninsula which probably indicates a massive gene- (1) How heterogeneous are each of the communi- tic contribution into the small pre-existing Jewish ties? community from indigenous tribes who converted to (2) How much do they differ genetically from Judaism in the fourth or fifth centuries. A similar each other and from their previous host population? situation exists with regard to Cochin Jews10 11 and J Med Genet: first published as 10.1136/jmg.26.3.179 on 1 March 1989. Downloaded from Medical genetics in Israel 181 local Kerala Indians and with regard to the Ethio- of world Jewry) is concentrated mainly in the pian Jews'2 and the non-Jewish Ethiopian tribes. western world where the level of investigative Thus these Jewish communities are genetically medicine is the highest.
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