jewish founder haplotypes: Topics by WorldWideScience.org

How frugal is mother nature with haplotypes?

IntroductionMustafa Kemal Atatürk, founder of the Turkish Republic, had guarded many German scientists of a Jewish descent before the Second World War. Dr. Rudolf Nissen...Full Text Available

2010-06-01

Insurgency in Ancient Times: The Jewish Revolts Against the ...

Motivation: Inference of haplotypes from genotype data is crucial and challenging for many vitally important studies. The first, and most critical step, is the ascertainment of a biologically...Full Text Available

2009-01-01

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.

... 82 Ibid, 200. 83 Ibid, 200. 84 Ibid, 201. 43 Page 49. care to hunt down and execute all that claimed to be from the house of David. They considered ...

2005-05-26

Haplotype of N-Acetyltransferase 1 and 2 and Risk of Pancreatic Cancer

Chronic and adult-onset GM2 gangliosidoses are neurological disorders caused by marked deficiency of the A isoenzyme of beta-hexosaminidase; they occur in the Ashkenazi Jewish population, though less...Full Text Available

1989-04-01

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

We examined the association between N-acetyltransferase 1 and 2 (NAT1 and NAT2) haplotype and risk of pancreatic cancer by genotyping eight...Full Text Available

2007-11-01

Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals

Fast and efficient high-throughput techniques are essential for the molecular diagnosis of highly heterogeneous hereditary diseases, such as retinitis pigmentosa (RP). We had previously approached RP...Full Text Available

2010-01-01

Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).

Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. Allele-specific hybridization with oligonucleotide probes demonstrated that this mutation was found exclusively in type 1 phenotype. None of the 6 type 2 patients, 11 type 3 patients, or 12 normal controls had this allele. In contrast, 15 of 24 type 1 patients had one allele with this mutation, and 3 others were homozygous for the mutation. Furthermore, some of the Ashkenazic Jewish type 1 patients had only one allele with this mutation, suggesting that even in this population there is ...

Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies

BACKGROUND: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic...Full Text Available

1996-01-01

Identification of genes and haplotypes that predict rheumatoid arthritis using random forests

Over 200 mutations in the retina specific member of the ATP-binding cassette transporter super-family (ABCA4) have been associated with a diverse group of human retinal diseases....Full Text Available

2010-10-01

A second generation human haplotype map of over 3.1 million SNPs

Random forest (RF) analysis of genetic data does not require specification of the mode of inheritance, and provides measures of variable importance that incorporate interaction effects. In this paper...Full Text Available

A haplotype map of the human genome

We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and...Full Text Available

2007-10-18

The Ethics and Practice of Islamic Medieval Charity

Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million...Full Text Available

2005-10-27

British Library Electronic Table of Contents (United Kingdom)

Abstract Charity is deeply embedded in the religious thought and teachings of the three monotheistic religions. This article, while focusing on medieval Islam, is set in a wider framework with references to both Jewish and Christian parallels. Three main topics are examined: the religious meaning of charity, the social and political ramifications of almsgiving, and the impact of the institutional form of charity (the pious endowment system, waqf pl. awqaf) on Muslim medieval society. In the course of this examination, the article deals with the motives and attitudes of the donors (mainly people of the ruling class and the wealthy) and with the recipients of charity (the poor as well as the learned class). The article equally provides an overview of the charitable institutions and functions...

2007-01-01

Association study of SNAP25 and schizophrenia in Irish family and case-control samples

British Library Electronic Table of Contents (United Kingdom)

SNAP25 occurs on chromosome 20p12.2, which has been linked to schizophrenia in some samples, and recently linked to latent classes of psychotic illness in our sample. SNAP25 is crucial to synaptic functioning, may be involved in axonal growth and dendritic sprouting, and its expression may be decreased in schizophrenia. We genotyped 18 haplotype-tagging SNPs in SNAP25 in a sample of 270 Irish high-density families. Single marker and haplotype analyses were performed in FBAT and PDT. We adjusted for multiple testing by computing q values. Association was followed up in an independent sample of 657 cases and 411 controls. We tested for allelic effects on the clinical phenotype by using the method of sequential addition and 5 factor-derived scores of the OPCRIT. Nine of 18 SNPs had P values <...

2010-01-01

New England Wind Forum: A Wind Powering America Project, Newsletter #5 -- January 2010, Wind and Hydropower Technologies Program (WHTP)

Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencing

Wind Powering America program launched the New England Wind Forum (NEWF) in 2005 to provide a single comprehensive source of up-to-date, Web-based information on a broad array of wind energy issues pertaining to New England. The NEWF newsletter provides New England stakeholders with updates on wind energy development in the region. In addition to regional updates, Issue #5 offers an interview with Angus King, former governor of Maine and co-founder of Independence Wind.

2010-01-01

Beginning Scala

CERN Document Server

The open source Scala language is a Java--based dynamic scripting, functional programming language. Moreover, this highly scalable scripting language lends itself well to building Cloud--based/deliverable Software as a Service (SaaS) online applications. Written by Lift Scala web framework founder and lead Dave Pollak, Beginning Scala takes a down--to--earth approach to teaching Scala that leads you through simple examples that can be combined to build complex, scalable systems and applications. This book introduces you to the Scala programming language and then guides you through Scala constr

2009-01-01

Effect of Rapid Human N-acetyltransferase 2 Haplotype on DNA Damage and Mutagenesis Induced by 2-Amino-3-methylimidazo [4,5-f] quinoline (IQ) and 2-Amino-3,8-dimethylimidazo-[4,5-f]quinoxaline (MeIQx)

BackgroundThe beta-defensin gene cluster (DEFB) at chromosome 8p23.1 is one of the most copy number (CN) variable regions of the human genome. Whereas individual DEFB CNs have been...Full Text Available

Martin Buber's philosophy of education and its implications for adult non-formal education

Heterocyclic amines such as 2-amino-3-methylimidazo [4,5-f] quinoline (IQ) and 2-amino-3,8-dimethylimidazo [4,5-f] quinoxaline (MeIQx) are dietary carcinogens generated when meats are cooked...Full Text Available

2010-02-03

British Library Electronic Table of Contents (United Kingdom)

The Jewish philosopher and educator Martin Buber (1878-1965) is considered one of the twentieth century's greatest contributors to the philosophy of religion and is also recognized as the pre-eminent scholar of Hasidism. He has also attracted considerable attention as a philosopher of education. However, most commentaries on this aspect of his work have focussed on the implications of his philosophy for formal education and for the education of the child. Given that much of Buber's philosophy is based on dialogue, on community and on mutuality, it is puzzling that relatively little has been written on the implications of Buber's thought for the theory and practice of non-formal adult education. The article provides a discussion of the philosophy underpinning this aspect of Martin Buber's l...

2009-01-01

[The contribution of N.I. Pirogov to the development of forensic medicine (on the occasion of his 200th birthday anniversary)].

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity

The main facets of professor N.I. Pirogov's professional activity are outlined. Forensic medicine (in the first place its organizational and practical aspects) was an integral component of his scientific and clinical work, along with applied anatomy and surgery. Landmark publications of N.I. Pirogov are listed with special reference to those concerned with forensic medical expertise of medical malpractice cases, postmortem inspection and intravital examination procedures, wound ballistics studies, the atlas of forensic pathology, etc. The surgeon and anatomist N.I. Pirogov can be justly regarded as a founder of forensic medicine in this country. PMID:21866839

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British Library Electronic Table of Contents (United Kingdom)

Coutinho MF, Encarnao M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigals O, Prata MJ, Alves S. Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. Mucolipidosis II (ML II alpha/beta), or I-cell disease, is a rare genetic disease in which activity of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent. GlcNAc-phosphotransferase is a multimeric enzyme encoded by two genes, GNPTAB and GNPTG. A spectrum of mutations in GNPTAB has been recently reported to cause ML II alpha/beta. Most of these mutations were found to be private or rare. ...

2011-01-01

Association study of SNAP25 and schizophrenia in Irish family and case-control samples.

Polymorphisms in fatty acid metabolism-related genes are associated with colorectal cancer risk

2010-03-01

DEFF Research Database (Denmark)

Colorectal cancer is the third most common malignant tumor and the fourth-leading cause of cancer death worldwide. The crucial role of fatty acids for a number of important biological processes suggests a more in depth analysis of inter-individual differences in fatty acid metabolizing genes as contributing factor to colon carcinogenesis. We examined the association between genetic variability in 43 fatty acid metabolism-related genes and colorectal risk in 1225 CRC cases and 2032 controls participating in the European Prospective Investigation into Cancer and Nutrition study. 392 single nucleotide polymorphisms were selected using pairwise tagging with an r(2) cutoff of 0.8 and a minor allele frequency of >5%. Conditional logistic regression models were used to estimate odds ratios and corresponding 95% confidence intervals. Haplotype analysis was performed using a generalized linear model framework. On the genotype level, HPGD, PLA2G6, and TRPV3 were ...

2010-01-01

A marvel of colors and ingredients. The story of urine test strip.

Differentially expressed genes in hypothalamus in relation to genomic regions under selection in two chicken lines resulting from divergent selection for high or low body weight

The history of the urinary test papers does not being in the post-war period. As early as the 1880's some practitioners and pharmacists tried to replace the complicated wet-chemical procedures and apparatus by "dry chemistry." The first popular test paper for sugar and albumin originated in England in 1883. Dry reagents for proving hematuria have been available since the beginning of this century. Until the 1930s a wide palette of commercial urine tests with "modern" brand names was established. A methodological breakthrough was created by the spot test chemistry inaugurated by the Austrian, Fritz Feigl, about 1920. Using the capillary properties of filter paper in enhancing color reactions he founded a new area of analytical chemistry. Many of the pioneers were recruited from Jewish scientists. In this lecture is proposed that their emigration and banishment as well as the Second World War have stopped the development of urinary diagnostics on the European ...

1994-11-01

British Library Electronic Table of Contents (United Kingdom)

Long-term divergent selection for low or high body weight from the same founder population has generated two extremely divergent lines of chickens, the high- (HWS) and low-weight (LWS) selected lines. At selection age (56?days), the lines differ by more than nine times in body weight. The HWS line chickens are compulsive feeders, whereas in the LWS line, some individuals are anorexic and others have very low appetite. Previous studies have implicated the central nervous system and particularly the hypothalamus in these behavioural differences. Here, we compared the mRNA expression in hypothalamus tissue from chickens on day?4 post-hatch using oligonucleotide arrays and found that the divergent selection had resulted in minor but multiple expression differences. Differentially expressed gen...

2011-01-01

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

British Library Electronic Table of Contents (United Kingdom)

The penetrance of Lebers hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (Pin vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a seconda...

2008-01-01

Efficient natural defense mechanisms against Listeria monocytogenes in T and B cell-deficient allogeneic bone marrow radiation chimeras. Preactivated macrophages are the main effector cells in an early phase after bone marrow transfer

Association of attention-deficit disorder and the dopamine transporter gene

Radiation chimeras in the early phase after bone marrow transplantation are a good model to study the efficiency of the body's nonspecific defense system represented by macrophages (M phi), polymorphonuclear cells (PMN), and NK cells. These cell types are present in large numbers in spleen and liver at that time, whereas the specific immune system represented by T and B cells is functionally deficient. We previously reported enhanced activities in vitro of M phi (and PMN) from recipient animals in an early phase after allogeneic bone marrow transfer. We here demonstrate that these activities result in enhanced spontaneous resistance against Listeria monocytogenes in vivo: CFU of L. monocytogenes in spleen and liver 48 h after infection were about 1 or 2 to 4 log steps less than in untreated control mice of donor or host haplotype. This enhanced resistance decreased over the 4-mo period after marrow transfer. Preactivated M phi were identified as the most important ...

Sympatric Distribution of Three Human Taenia Tapeworms Collected between 1935 and 2005 in Korea

Attention-deficit hyperactivity disorder (ADHD) has been shown to be familial and heritable, in previous studies. As with most psychiatric disorders, examination of pedigrees has not revealed a consistent Mendelian mode of transmission. The response of ADHD patients to medications that inhibit the dopamine transporter, including methylphenidate, amphetamine, pemoline, and bupropion, led us to consider the dopamine transporter as a primary candidate gene for ADHD. To avoid effects of population stratification and to avoid the problem of classification of relatives with other psychiatric disorders as affected or unaffected, we used the haplotype-based haplotype relative risk (HHRR) method to test for association between a VNTR polymorphism at the dopamine transporter locus (DAT1) and DSM-III-R-diagnosed ADHD (N = 49) and undifferentiated attention-deficit disorder (UADD) (N = 8) in trios composed of father, mother, and affected offspring. HHRR ...

1995-04-01

Long-term IL-2 therapy after transplantation of T cell depleted stem cells from alternative donors in children

Taeniasis has been known as one of the prevalent parasitic infections in Korea. Until recently, Taenia saginata had long been considered a dominant, and widely distributed species but epidemiological profiles of human Taenia species in Korea still remain unclear. In order to better understand distribution patterns of human Taenia tapeworms in Korea, partial nucleotide sequences of mitochondrial cox1 and ITS2 (internal transcribed spacer 2) were determined, along with morphological examinations, on 68 Taenia specimens obtained from university museum collections deposited since 1935. Genomic DNA was extracted from formalin-preserved specimens. Phylogenetic relationships among the genotypes (cox1 haplotype) detected in this study were inferred using the neighbor-joining method as a tree building method. Morphological and genetic analyses identified 3 specimens as T. solium, 51 specimens as T. asiatica, and 14 specimens as T. saginata. Our results indicate that all 3 ...

2008-12-20

British Library Electronic Table of Contents (United Kingdom)

The aim of this pilot study was to evaluate the feasibility of long-term subcutaneous application of low-dose IL-2 in children with malignancies at very high risk of relapse who underwent highly T cell and B cell depleted HLA-identical (MUD) or full haplotype mismatched related hematopoetic stem cell transplantation. We studied 11 patients with acute leukemias/myelodysplastic syndrome and juvenile myelomonocytic leukemia (active disease and/or second stem cell transplantation, n = 8; >=CR 2, n = 2) and relapsed or progressive Ewings sarcoma (n = 2) who received prophylactic IL-2 treatment for a high probability of disease recurrence after allo-HSCT. Toxicities from IL-2 were transient fever, fatigue and local inflammation. In one patient GvHD grade III with no clear association to IL-2 adm...

2011-01-01

Three novel mutations responsible for Cockayne syndrome group A

Lower Cretaceous carbonate megabank, south Florida, depositional setting and petroleum potential

Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by ultraviolet (UV)-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A patients and identified 3 types of mutations. Four unrelated CS-A patients (CS2OS, CS2AW, Nps2 and CS2SE) had a deletion including exon 4, suggesting that there is a founder effect on the CSA mutation in Japanese CS-A patients. Patient CS2SE was a compound heterozygote for this deletion and an amino acid substitution at the 106th glutamine to proline (Q106P) in the WD-40 repeat motif of the CSA protein, which resulted in a defective nucleotide excision repair. Patient Mps1 had a large deletion in the upstream region including exon 1 of the CSA gene. ...

2003-02-01

Facing the challenges of the nuclear renaissance

Reinterpretation of the South Florida basin reveals that it was a keep-up carbonate shelf during the Lower Cretaceous. Until the Cenomanian, it was connected to the Bahamas and the Cay Sal Bank north of Cuba. The Cenomanian sea level rise was at least partially responsible for the formation of the Florida Straits, isolating the platform. The combination of an abrupt worldwide rise in sea level and subsidence caused the South Florida platform to founder, ending shallow-water and evaporitic sedimentation over the majority of the shelf. The Cay Sal and Bahamian platforms remained as active shallow shelves separated by the Old Bahamas Channel. The Lower Cretaceous sediments are characterized by shallow shelf limestones, dolomites, and evaporites (mostly anhydrite). The evaporite-rich sections, originally thought to represent basinal facies, are reinterpreted as supratidal to shallow subtidal evaporites, based on examination of core and cuttings. Influx of normal marine ...

1987-05-01

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

The Nuclear Renaissance is stumbling at the very same time it should speed up in order to help control the climate change and meet a fast growing energy need in a large part of the world. Rising costs of projects, uncertainties about their completion, rocketing safety requirements, and financial constraints are key factors which slow down the Nuclear Renaissance. Furthermore, the legal infrastructure required from any country to enter a commercial nuclear programme (safety authorities, fuel cycle, and waste disposal) is a major hurdle s which impedes consideration for small to mid size reactors, well suited for many countries. The paper prepared and presented by Alain Bugat (Chairman of NucAdvisor and former Head of the French Atomic Energy Commission), Dominique Vignon (CEO of NucAdvisor and former President and CEO of AREVA NP) and Michel Lecomte (Co-founder NucAdvisor) reviews the present status of the Nuclear Renaissance. Based on an analysis of initial versus ...

2010-07-01

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that ...

2008-08-25

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43

2008-08-25

Association and expression study of synapsin III and schizophrenia.

The Chediak-Higashi syndrome (CHS) is a severe autosomal recessive condition, features of which are partial oculocutaneous albinism, increased susceptibility to infections, deficient natural killer cell activity, and the presence of large intracytoplasmic granulations in various cell types. Similar genetic disorders have been described in other species, including the beige mouse. On the basis of the hypothesis that the murine chromosome 13 region containing the beige locus was homologous to human chromosome 1, we have mapped the CHS locus to a 5-cM interval in chromosome segment 1q42.1-q42.2. The highest LOD score was obtained with the marker D1S235 (Z{sub max} = 5.38; {theta} = 0). Haplotype analysis enabled us to establish D1S2680 and D1S163, respectively, as the telomeric and the centromeric flanking markers. Multipoint linkage analysis confirms the localization of the CHS locus in this interval. Three YAC clones were found to cover the entire region in a contig ...

1996-09-01