Blood groups in the Chueta community (Majorcan Jews)

A sample of 443 Chuetas (descendents of Majorcan Jews) was typed for the ABO, Rh, Lewis, Duffy, MNSs, Kell and P blood groups. Significant deviations from the Hardy-Weinberg equilibrium were observed in the MNSs and Duffy systems with a deficiency of heterozygotes. The gene frequencies were compared with those of the Balearic non-Jewish populations and significant differences were found. Genetic distances and cluster analysis demonstrated that the Chuetas resemble more their neighboring non-Jewish populations than other Jewish populations. Discriminant analyses showed that the Chuetas and other Jews considered in this study do not resemble each other but their host peoples with respect to these markers.     

Analysis of biochemical genetic data on Jewish populations: II. Results and interpretations of heterogeneity indices and distance measures with respect to standards.

A nonparametric statistical methodology is used for the analysis of biochemical frequency data observed on a series of nine Jewish and six non-Jewish populations. Two categories of statistics are used: heterogeneity indices and various distance measures with respect to a standard. The latter are more discriminating in exploiting historical, geographical and culturally relevant information. A number of partial orderings and distance relationships among the populations are determined. Our concern in this study is to analyze similarities and differences among the Jewish populations, in terms of the gene frequency distributions for a number of genetic markers. Typical questions discussed are as follows: These Jewish populations differ in certain morphological and anthropometric traits. Are there corresponding differences in biochemical genetic constitution? How can we assess the extent of heterogeneity between and within groupings? Which class of markers (blood typings or protein loci) discriminates better among the separate populations? The results are quite surprising. For example, we found the Ashkenazi, Sephardi and Iraqi Jewish populations to be consistently close in genetic constitution and distant from all the other populations, namely the Yemenite and Cochin Jews, the Arabs, and the non-Jewish German and Russian populations. We found the Polish Jewish community the most heterogeneous among all Jewish populations. The blood loci discriminate better than the protein loci. A number of possible interpretations and hypotheses for these and other results are offered. The method devised for this analysis should prove useful in studying similarities and differences for other groups of populations for which substantial biochemical polymorphic data are available.     

Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations.

Carrier frequencies for the allele(s) causing Sandhoff disease have been estimated for the U.S. Jewish and non-Jewish populations. The estimates have been made directly, with data from 22,043 Jewish and 32,342 non-Jewish individuals measured for total serum hexosaminidase activity and the heat-labile fraction. These values have been shown to identify potential carriers of the Sandhoff allele(s) with 95% sensitivity. Subsequent leukocyte assays of total hexosaminidase activity and the heat-labile fraction in those identified in serum tests have been shown to provide a much finer discrimination between those who carry the allele(s) and those who do not. Results from such assays were used to generate these carrier frequency estimates. Carrier frequency estimates have also been made indirectly from Sandhoff disease incidence data collected during the period 1979-84. These estimates are in agreement with data for the Jewish population under analysis, but in the non-Jewish population the estimate derived from data on screened individuals is greater than the estimate derived from incidence figures. The possible causes for such a difference are discussed. In a study of non-Jewish individuals each of whose grandparents derives from a single country of origin, the distribution of countries among Sandhoff disease carriers differs significantly from that in the non-Jewish sample under analysis, indicating possible ethnic groups with increased or decreased carrier frequencies. These analyses suggest an increased Sandhoff disease carrier frequency among Mexican and Central-American populations and a decreased carrier frequency among non-Jewish German populations.     

Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data

The N370S mutation at the GBA locus on human chromosome 1q21, which causes Gaucher disease (GD), has a high frequency in the Ashkenazim and is the second-most-widespread GD mutation in the European non-Jewish population. A common ancient origin for the N370S mutation in the Ashkenazi Jewish and Spanish populations has been proposed on the basis of both a similar haplotype for associated markers and an age estimate that suggests that this mutation appeared several thousand years ago. However, a reappraisal of haplotype data, using the Risch formula properly along with a Luria-Delbrück setting of the genetic clock, allows identification of the likely origin of the N370S mutation in Ashkenazi Jews between the 11th and 13th centuries. This result is consistent with the estimated ages of other mutations that are frequent among Ashkenazim, with the exception of type II (Glu117Stop) factor XI deficiency, which is deemed to be >3000 years old, predating the separation of the Ashkenazi and Iraqi Jews. The present finding supports the hypothesis of a more recent origin for the N370S mutation and is consistent with both a founder chromosome transfer from Ashkenazim who assimilated in some European populations and a non-Jewish origin of the European N370S-bearing chromosomes.     

中国境内稗(Echinochloa crus-galli)形态变异及其遗传和地理背景分析

采集了浙江、福建、江苏、湖南、湖北、四川、重庆、黑龙江、河南9个省的稗（Echinochloa crus-galli（L.）P.Beauv.）及其变种的33份种子,分别播种在相同的环境下,获得33个种群,测定了种群的16个形态性状,筛选出重复性好的9条ISSR引物,从33个种群中扩增出了109个位点。基于这些形态性状和ISSR位点信息,对33个种群先进行主成分分析,在此基础上再进行模糊均值聚类分析,探讨了它们的形态和遗传变化特点,及其与形态-遗传-地理背景三者之间的关系。主要结论如下：（1）33个种群可以鉴别出形态性状相对一致的4组,能够识别出西来稗（E.crus-galli var.zelayensis（Kunth）Farw.）、无芒稗（E.crus-galli var.mitis（Pursh）Peterm.）、细叶旱稗（E.crus-galli var.praticola Ohwi）;（2）基于109个位点信息对33个种群进行聚类分析得到了6组,部分组与形态聚类分组有一定的对应性;（3）33个稗草种群的遗传分化受地理背景因素的影响（r=0.684,n=33,P<0.001）;形态变异也有较明显的遗传背景因素（r=0.425,n=33,P<0.02）。在相对一致的稻田生境中,可能存在着形态上的趋同适应,使遗传上分化的组间在形态上又往往有交叉过渡,致使稗原变种（E.crus-galli var.crus-galli）、西来稗、无芒稗、短芒稗（E.crus-galli var.breviseta（Döll）Podp.）在形态上难以区别;（4）基于遗传和形态数据分析,发现细叶旱稗无论在形态上,还是遗传上,均形成了明显的一组,推测与该种长期适应于干旱生境有关,建议将细叶旱稗提升为种的水平,并将其命名为Echinochloa praticola（Ohwi）Guo S L,Lu Y L,Yin L P&Zou M Y。     

Immunoglobulin allotypes in Jewish populations living in Israel and the United States

The ongoing interest in the interrelationships of Jewish populations justifies inclusion of the immunoglobulin allotypes in an ethnohistorical analysis. A total of 2,184 serum specimens obtained from unrelated Israeli Jewish and self-identified Milwaukee, WI, Jewish blood donors were classified as Ashkenazi, Sephardi, Asiatic, or North African and tested for G1m (a, x, z, and f), G3m (b0, b1, b3, b5, g), A2m (1 and 2), and Km (1). Selected sera were also tested for G3m (s, t, c3, c5). The estimated maximum likelihood Gm-Am haplotype frequencies were used in a heterogeneity chi-square analysis. The results indicate that there is less heterogeneity within Jewish populations from Europe, Middle East, and North Africa than in corresponding non-Jewish populations representing the same geographical areas. In order to avoid the hazards of a univariate focus, previously published data were incorporated into two additional analyses: 15 populations with information on 16 genetic loci and 24 populations with information on five genetic loci. Both sets of data were analyzed using principal-components and cluster analysis. In both sets of analyses, with the exception of the Yemenite Jews, Jewish populations grouped together. These analyses support the belief that Jewish populations appear to be derived from a common gene pool, and there has been some genetic drift and minimal gene flow with surrounding populations.     

Immunoglobulin (Gm) allotypes in a sample of Canadian Ashkenazic Jews

Gm typing on the serum specimens of 507 Ashkenazic Jews (pre-dominantly of Polish-Russian ancestry) from Toronto, Canada has established the presence of haplotypes Gm3;5, Gm1;21, Gm1,2;21, and Gm1,17;5, and the absence of haplotypes Gm1;13,15,16, Gm1;5,6, and Gm1;5,6,24 which have been found in other Jewish peoples. It is suggested that Ashkenazic populations have lower frequencies of haplotype Gm1,17;5 than non-European Jewish populations, and that some eastern European Jewish populations have acquired the Gm1;13,15,16 haplotype through gene flow from Central Asia. Thus Jewish populations show differences in the Gm system; many of the differences may be in the direction of similarities to neighbouring non-Jewish populations.     

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.

The frequency of nine different mutated alleles known to occur in the glucocerebrosidase gene was determined in 247 Gaucher patients, of whom 176 were of Jewish extraction, 2 were Jewish with one converted parent, and 69 were of non-Jewish origin. DNA was prepared from peripheral blood, active glucocerebrosidase sequences were amplified by using the PCR technique, and the mutations were identified by using the allele-specific oligonucleotide hybridization method. The N37OS mutation appeared in 69.77% of the mutated alleles in Jewish patients and in 22.86% of the mutated alleles in non-Jews. The 84GG mutation, which has not been found so far among non-Jewish patients, existed in 10.17% of the disease alleles among Jewish patients. The IVS + 1 mutation constituted 2.26% of the disease alleles among Jewish patients and 1.43% among the non-Jewish patients. RecTL, a complex allele containing four single-base-pair changes, occurred in 2.26% of the alleles in Jewish patients and was found in two (1.43%) of the patients of non-Jewish extraction. Another complex allele, designated "RecNciI" and containing three single-point mutations, appeared in 7.8% of alleles of non-Jewish patients and in only two (0.56%) of the Jewish families. The prevalence of the L444P mutation among non-Jewish Gaucher patients was 31.43%, while its prevalence among Jewish patients was only 4.24%. The prevalence of two other point mutations--D409H and R463C--was 5.00% and 3.57%, respectively, among non-Jewish patients and was not found among the Jewish Gaucher patient population. The prevalence of the R496H mutation, found so far only among Jewish patients, was 1.13%. The results presented demonstrate that seven mutations identify 90.40% of the mutations among Jewish patients and that these seven mutations allow diagnosis of only 73.52% of the non-Jewish patients. Identification of additional mutant alleles will enhance the accuracy of carrier detection.     

Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry

For more than a century, Jews and non-Jews alike have tried to define the relatedness of contemporary Jewish people. Previous genetic studies of blood group and serum markers suggested that Jewish groups had Middle Eastern origin with greater genetic similarity between paired Jewish populations. However, these and successor studies of monoallelic Y chromosomal and mitochondrial genetic markers did not resolve the issues of within and between-group Jewish genetic identity. Here, genome-wide analysis of seven Jewish groups (Iranian, Iraqi, Syrian, Italian, Turkish, Greek, and Ashkenazi) and comparison with non-Jewish groups demonstrated distinctive Jewish population clusters, each with shared Middle Eastern ancestry, proximity to contemporary Middle Eastern populations, and variable degrees of European and North African admixture. Two major groups were identified by principal component, phylogenetic, and identity by descent (IBD) analysis: Middle Eastern Jews and European/Syrian Jews. The IBD segment sharing and the proximity of European Jews to each other and to southern European populations suggested similar origins for European Jewry and refuted large-scale genetic contributions of Central and Eastern European and Slavic populations to the formation of Ashkenazi Jewry. Rapid decay of IBD in Ashkenazi Jewish genomes was consistent with a severe bottleneck followed by large expansion, such as occurred with the so-called demographic miracle of population expansion from 50,000 people at the beginning of the 15^th century to 5,000,000 people at the beginning of the 19^th century. Thus, this study demonstrates that European/Syrian and Middle Eastern Jews represent a series of geographical isolates or clusters woven together by shared IBD genetic threads.     

The Group-Specific Component/Vitamin D Binding Protein (GC/DBP) in Jewish Population Groups. Distribution of common and rare alleles. Description of a new variant GC1C51

The distribution of GC phenotypes and alleles was determined in six Jewish population groups from Israel. In Jews of eastern Europe, central Europe and North Africa, the allele distribution was similar to that of European non-Jewish populations. GC^*2 frequencies were considerably lower in Jews of the Middle East and highest in Jews of the Balkan area (Rumania and Bulgaria). A new rare GC variant allele, hitherto not encountered, was observed in six Jewish individuals of various countries of origin. This variant was classified as GC 1C51.     

Dentofacial pattern of two Jewish ethnic groups compared with accepted norms

The population of immigrant communities is often composed of various ethnic groups who may differ in their dentofacial pattern. The objective of this study was to define the dentofacial pattern of Jewish adolescents of Kurdish origin, and to compare it with another ethnic group and with accepted cephalometric norms. Lateral cephalograms of 20 individuals of both sexes, aged 11–13 years, with normal occlusion in the early permanent dentition, were chosen from the Jerusalem Growth Study material. The cephalograms were traced twice and were processed by means of a computer aided cephalometric program. Downs' as well as some other common cephalometric measurements were used for the analyses. Several comparisons were made: a) with an Ashkenazi (East-European Jewish) group; b) with the findings on non-Jewish Iranian youths of similar geographic background as our Kurdish group; c) with classical cephalometric standards. Close similarity was found with the Ashkenazi group and almost identical pattern of the non-Jewish Iranian youths of similar geographic background. The comparison with the classical cephalometric standards indicated a higher FMA, a more convex profile, accompanied by a mild skeletal Class II tendency and mandibular incisor proclination in our sample. Therefore it stands to reason that the classical North American cephalometric standards for its white population are not applicable in their totality for the clinical evaluation of the two Jewish ethnic groups examined. Thus establishment of specific norms for specific groups within a heterogeneous community is indicated. In addition, a tendency to accept a more convex profile as normal, as apparent from the review of the contemporary orthodontic literature, may suggest the desirability for a revision of the accepted strict norms for a harmonious dentofacial pattern. Based on a thesis submitted to the graduate faculty, Hebrew University, in partial fulfillment of the requirements for the DMD degree.     

Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations

The molecular basis of more than 25 genetic diseases has been described in Ashkenazi Jewish populations. Most of these diseases are characterized by one or two major founder mutations that are present in the Ashkenazi population at elevated frequencies. One explanation for this preponderance of recessive diseases is accentuated genetic drift resulting from a series of dispersals to and within Europe, endogamy, and/or recent rapid population growth. However, a clear picture of the manner in which neutral genetic variation has been affected by such a demographic history has not yet emerged. We have examined a set of 32 binary markers (single nucleotide polymorphisms; SNPs) and 10 microsatellites on the non-recombining portion of the Y chromosome (NRY) to investigate the ways in which patterns of variation differ between Ashkenazi Jewish and their non-Jewish host populations in Europe. This set of SNPs defines a total of 20 NRY haplogroups in these populations, at least four of which are likely to have been part of the ancestral Ashkenazi gene pool in the Near East, and at least three of which may have introgressed to some degree into Ashkenazi populations after their dispersal to Europe. It is striking that whereas Ashkenazi populations are genetically more diverse at both the SNP and STR level compared with their European non-Jewish counterparts, they have greatly reduced within-haplogroup STR variability, especially in those founder haplogroups that migrated from the Near East. This contrasting pattern of diversity in Ashkenazi populations is evidence for a reduction in male effective population size, possibly resulting from a series of founder events and high rates of endogamy within Europe. This reduced effective population size may explain the high incidence of founder disease mutations despite overall high levels of NRY diversity.Electronic Supplementary Material Supplementary material is available in the online version of this article at D.M. Behar and D. Garrigan contributed equally to this workElectronic database information: URLs for the data in this article are as follows:ARLEQUIN,     

PI and TF subtypes in Chuetas (Majorcan Jews).

PI and TF subtypes were studied in a sample of 137 individuals of the Chueta population. In addition to the PI*M alleles, PI*S, PI*Z, and PI*F were observed in the PI system. In the TF system no TF*B or TF*D alleles were found. PI results were compared with those of some Jewish and non-Jewish populations. The relatively high frequency of PI*S is indicative of a substantial Spanish influence. There are no previous data available on TF*C subtypes in Jews. The very low TF*C3 frequency in Chuetas (lower than in Spain) indicates that this allele may be extremely rare or absent in other Jewish populations.     

Mitochondrial DNA evidence for a diversified origin of workers building First Emperor of China

Variant studies on ancient DNA have attempted to reveal individual origin. Here, based on cloning sequencing and polymerase chain reaction-restriction fragment length polymorphisms, we analyzed polymorphisms in the first hypervariable region and coding regions of mitochondrial DNA of 19 human bone remains which were excavated from a tomb near the Terra Cotta Warriors and dated some 2,200 years before present. With the aim of shedding light on origins of these samples who were supposed to be workers building the mausoleum for the First Emperor of China, we compared them with 2,164 mtDNA profiles from 32 contemporary Chinese populations at both population and individual levels. Our results showed that mausoleum-building workers may be derived from very diverse sources of origin.     

Mitochondrial DNA Evidence for a Diversified Origin of Workers Building Mausoleum for First Emperor of China

Variant studies on ancient DNA have attempted to reveal individual origin. Here, based on cloning sequencing and polymerase chain reaction-restriction fragment length polymorphisms, we analyzed polymorphisms in the first hypervariable region and coding regions of mitochondrial DNA of 19 human bone remains which were excavated from a tomb near the Terra Cotta Warriors and dated some 2,200 years before present. With the aim of shedding light on origins of these samples who were supposed to be workers building the mausoleum for the First Emperor of China, we compared them with 2,164 mtDNA profiles from 32 contemporary Chinese populations at both population and individual levels. Our results showed that mausoleum-building workers may be derived from very diverse sources of origin.     

陶寺中晚期人骨的种系分析

本文对陶寺文化中晚期墓葬和灰坑中的人骨进行了性别年龄的鉴定和种族类型的分析, 并报告了人骨古DNA的分析结果。DNA的分析结果表明墓葬中的人骨和灰坑中的人骨在单倍型的分类上没有差别, 属于中国北方人群的常见单倍群。头骨测量特征的多元统计分析显示出灰坑的人骨与二十世纪发掘的陶寺文化早期墓葬中出土的人骨形态距离较远。这个结果可能暗示着陶寺早期人群和中晚期的人群可能有不一样的来源, 期望未来对这两个人群的直接的DNA对比结果会有助于来源问题的解决。     

Analysis of biochemical genetic data on Jewish populations. III. The application of individual phenotype measurements for population comparisons.

Individual phenotypic data on six blood markers and six enzyme polymorphisms in seven Jewish and two non-Jewish populations were subjected to a comparative statistical analysis. A set of functionals defined with respect to the individual biochemical profiles was used to investigate the following problems: (1) What are the distributional characteristics of various types of individual heterozygosity measures (for blood and enzyme loci) within and across populations? (2) Is the observed phenotypic variation in agreement with what might be expected if the loci were independent? (3) What proportion of the characteristics can be explained by reference to population structure and historical data? Average total heterozygosity of blood and protein loci was highest in the Iraqi population and lowest in the Yemenite. The differences among the other populations were not significant. The highest cumulative recessive homozygosity of blood markers occurs in Yemenites and Samaritans. No association was present between total blood and protein heterozygosity. Applications of these ideas and techniques to the study of multilocus genetic organization are discussed.     

Familial dwarfism with high IR-GH: Report of two affected sibs with genetic and epidemiologic considerations

Summary Two sibs with high serum IR-GH dwarfism, born to first-cousin parents are described. Genetic analysis based upon 25 reported informative kindreds indicates that the condition has an autosomal recessive pattern of inheritance. Population evaluation and epidemiology of the affected subjects suggest that mutation rates of the gene determining the disease in non-Jewish populations could be as rare as 3.2×10^-5. However, its prevalence must be exceptionally high among endogamous Oriental Jewish groups derived from a common gene pool in historical times.     

Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors

We have analyzed the maternally inherited mitochondrial DNA from each of nine geographically separated Jewish groups, eight non-Jewish host populations, and an Israeli Arab/Palestinian population, and we have compared the differences found in Jews and non-Jews with those found using Y-chromosome data that were obtained, in most cases, from the same population samples. The results suggest that most Jewish communities were founded by relatively few women, that the founding process was independent in different geographic areas, and that subsequent genetic input from surrounding populations was limited on the female side. In sharp contrast to this, the paternally inherited Y chromosome shows diversity similar to that of neighboring populations and shows no evidence of founder effects. These sex-specific differences demonstrate an important role for culture in shaping patterns of genetic variation and are likely to have significant epidemiological implications for studies involving these populations. We illustrate this by presenting data from a panel of X-chromosome microsatellites, which indicates that, in the case of the Georgian Jews, the female-specific founder event appears to have resulted in elevated levels of linkage disequilibrium.     

从头骨形态学和古DNA探究公元3～4世纪西藏阿里地区人群的来源

中国社会科学院考古研究所和西藏自治区文物保护研究所于2012年至2014年间在西藏阿里地区噶尔县发现了一个古代墓群,称为故如甲木墓地。其中8座墓葬的时代约为公元3-4世纪,相当于中原的汉晋时期。共发现32例个体,对其中保存较好的16例个体（7例男性,9例女性）的头骨进行了形态观察和测量分析。聚类分析结果显示故如甲木古代居民与四川卡莎湖古代居民最接近,相比与陕西、山西、河南等地区古代居民的关系,故如甲木居民与新疆多岗和察吾乎四号墓地的古代居民更为接近。与近现代人群比较,故如甲木与广西壮族和藏族A型的现代居民接近。线粒体DNA的分析结果表明,故如甲木居民的母系来源多元化,大多数为欧亚东部类群,也有少量是欧亚西部类群,他们对中国现代藏族人群以及西藏的其他一些民族具有母系遗传的贡献。