2,583 research outputs found
Y-chromosome R-M343 African lineages and sickle cell disease reveal structured assimilation in Lebanon
No full textWe have sought to identify signals of assimilation of African male lines in Lebanon by exploring the association of sickle cell disease (SCD) in Lebanon with Y-chromosome haplogroups that are informative of the disease origin and its exclusivity to the Muslim community. A total of 732 samples were analyzed, including 33 SCD patients from Lebanon genotyped for 28 binary markers and 19 short tandem repeats on the non-recombinant segment of the Y chromosome. Genetic organization was identified using populations known to have influenced the genetic structure of the Lebanese population, in addition to African populations with high incidence of SCD. Y-chromosome haplogroup R-M343 sub-lineages distinguish between sub-Saharan African and Lebanese Y chromosomes. We detected a limited penetration of SCD into Lebanese R-M343 carriers, restricted to Lebanese Muslims. We suggest that this penetration brought the sickle cell gene along with the African R-M343, probably with the Saharan caravan slave trade. © 2011 The Japan Society of Human Genetics All rights reserved.Abu-Amero KK, 2009, BMC GENET, V10, DOI 10.1186-1471-2156-10-59; BANDELT HJ, 1995, GENETICS, V141, P743; BENNAEH Y, 2006, JEWISH HIST, V20, P315, DOI 10.1007-s10835-006-9018-z; Bereir RE, 2007, EUR J HUM GENET, V15, P1183, DOI 10.1038-sj.ejhg.5201892; Berniell-Lee G, 2009, MOL BIOL EVOL, V26, P1581, DOI 10.1093-molbev-msp069; Cadenas AM, 2008, EUR J HUM GENET, V16, P374, DOI 10.1038-sj.ejhg.5201934; Cruciani F, 2010, EUR J HUM GENET, V18, P800, DOI 10.1038-ejhg.2009.231; Cruciani F, 2002, AM J HUM GENET, V70, P1197, DOI 10.1086-340257; DOUAIHY YCZ, 2007, LEBANESE 1907 2006 C; El-Sibai M, 2009, ANN HUM GENET, V73, P568, DOI 10.1111-j.1469-1809.2009.00538.x; EXCOFFIER L, 1992, GENETICS, V131, P479; Excoffier L, 2005, EVOL BIOINFORM, V1, P47; FELSENSTEIN J, 2009, THEORETICAL EVOLUTIO; Gomes V, 2010, HUM GENET, V127, P603, DOI 10.1007-s00439-010-0808-5; Hartl DL, 2007, PRINCIPLES POPULATIO; Hitti Philip, 1957, LEBANON HIST EARLIES; Inati A, 2007, INT J LAB HEMATOL, V29, P399, DOI 10.1111-j.1751-553X.2007.00964.x; Inati A, 2003, EUR J HAEMATOL, V70, P79, DOI 10.1034-j.1600-0609.2003.00016.x; KAMEL K, 1979, J MED GENET, V16, P428, DOI 10.1136-jmg.16.6.428; Kruskal JB, 1964, PSYCHOMETRIKA, V29, P1; KULOZIK AE, 1986, AM J HUM GENET, V39, P239; KURNIT DM, 1979, LANCET, V1, P104; Lovejoy Paul E, 1983, TRANSFORMATIONS SLAV; Onofri V, 2007, INT J LEGAL MED, V121, P234, DOI 10.1007-s00414-007-0153-y; Robino C, 2008, INT J LEGAL MED, V122, P251, DOI 10.1007-s00414-007-0203-5; SERJEANT GR, 1989, ANN NY ACAD SCI, V565, P109, DOI 10.1111-j.1749-6632.1989.tb24157.x; Serjeant GR, 1997, LANCET, V350, P725, DOI 10.1016-S0140-6736(97)07330-3; SOLOMON E, 1979, LANCET, V1, P923; WRIGHT J, 1996, J N AFRICAN STUDIES, V1, P42; Zalloua PA, 2008, AM J HUM GENET, V82, P873, DOI 10.1016-j.ajhg.2008.01.020; Zalloua PA, 2008, AM J HUM GENET, V83, P633, DOI 10.1016-j.ajhg.2008.10.0121
Accurate and Rapid Prenatal Diagnosis of the Most Frequent East Mediterranean β-Thalassemia Mutations
No full textβ-Thalassemia is the most common genetic disorder in the Lebanese population. Of the 200 different mutations in the β-globin gene that leads to thalassemia, the IVSI-110 (29.87percent), IVSI-6 (20.74percent), IVSI-1 (14.07percent), IVSII-1 (9.13percent), Cd29 (9.13percent), and Cd30 (3.95percent) mutations are the most frequent among Lebanese thalassemic patients. These mutations are also present at high frequencies in the East Mediterranean region. Due to this high prevalence of certain β-thalassemia mutations, a rapid technique for the prenatal diagnosis of these mutations was implemented. The technique used is based on Real-Time PCR quantification and melting curve analysis of the amplified fragment using the LightCycler. The DNA samples used for amplification were obtained from CVS or amniotic fluid. Six mutations were easily and efficiently detected using only 3 sets of probes. With this method, mutant genotypes can be easily distinguished from normal alleles. In prenatal diagnosis, the accuracy and the speed of testing are paramount. The method of prenatal β-thalassemia mutations detection described here is efficient and fast, with the entire procedure including DNA preparation taking less than half a workday. It is safe, does not involve radioactivity, and is accurate showing 100percent concordance with conventional DNA sequencing methods. © 2004 Wiley-Liss, Inc.Angastiniotis M, 1998, ANN NY ACAD SCI, V850, P251, DOI 10.1111-j.1749-6632.1998.tb10482.x; Bravo M, 1999, Invest Clin, V40, P203; CABANNES R, 1965, NOUV REV FR HEMATOL, V5, P851; CHEHAB FF, 1987, BLOOD, V69, P1141; FORGET BG, 1980, TEX REP BIOL MED, V40, P77; HAMAMY H, 1994, B WORLD HEALTH ORGAN, V72, P145; Kattamis C, 1997, PEDIATR HEMAT ONCOL, V14, pR7; KAZAZIAN HH, 1991, SEMIN PERINATOL, V15, P15; KHLAT M, 1986, AM J MED GENET, V25, P299, DOI 10.1002-ajmg.1320250215; Lyon E, 2001, Expert Rev Mol Diagn, V1, P92, DOI 10.1586-14737159.1.1.92; Pals G, 2001, J BIOCHEM BIOPH METH, V47, P121, DOI 10.1016-S0165-022X(00)00158-5; Perrimond H, 2001, B SOC PATHOL EXOT, V94, P92; THEIN SL, 1990, P NATL ACAD SCI USA, V87, P3924, DOI 10.1073-pnas.87.10.3924; Weatherall DJ, 1999, SEMIN HEMATOL, V36, P24; Zahed L, 1997, HUM HERED, V47, P241, DOI 10.1159-000154419128
Inflammation in atherosclerosis: A new therapeutic target
No full textCoronary artery disease (CAD) is still the leading cause of death in men and women, despite our better understanding of the disease process. Atherosclerosis, the underlying pathological process that leads to CAD, was considered a disorder of lipid metabolism and deposition of lipid material in the vessel wall. Today however, it is viewed as an inflammatory disease and it is evident that inflammation is involved in every step of plaque formation, progression and rupture. At the cellular level, recent studies on human and animal models illustrated the involvement of nuclear transcription factors in early lesion formation and lesion progression. Nuclear factor Kappa-B (NF-κB) activation can result in a proinflammatory, atherogenic process while peroxisome proliferator-activated receptors (PPARs) and their ligands have an atheroprotective, anti-inflammatory effect. Many drugs and compounds have been shown to block NF-κB or reduce its effects while others activate PPARs and slow or halt the inflammatory process. In this review, we will discuss the contribution of NF-κB and PPARs to the different inflammatory pathways that contribute to atherosclerosis. We will also discuss the effect on the inflammatory pathways by different therapeutic options like the angiotensin converting enzyme (ACE) inhibitors and the angiotensin receptor blockers (ARBs), insulin and insulin sensitizers, statins and fibrates, aspirin and salicylates, and antibacterial and antiviral therapy. © 2005 Bentham Science Publishers Ltd
Simple drag prediction strategies for an Autonomous Underwater Vehicle’s hull shape
No full textThe range of an AUV is dictated by its finite energy source and minimising the energy consumption is required to maximise its endurance. One option to extend the endurance is by obtaining the optimum hydrodynamic hull shape with balancing the trade-off between computational cost and fluid dynamic fidelity. An AUV hull form has been optimised to obtain low resistance hull. Hydrodynamic optimisation of hull form has been carried out by employing five parametric geometry models with a streamlined constraint. Three Genetic Algorithm optimisation procedures are applied by three simple drag predictions which are based on the potential flow method. The results highlight the effectiveness of considering the proposed hull shape optimisation procedure for the early stage of AUV hull desig
Phylogenetic assessment of heterotrophic bacteria from a water distribution system using 16S rDNA sequencing
No full textDetermination of a heterotrophic plate count (HPC) for drinking-water samples alone is not enough to assess possible health hazards associated with sudden changes in the bacterial count. Speciation is very crucial to determine whether the population includes pathogens and (or) opportunistic pathogens. Most of the isolates recovered from drinking water samples could not be allocated to a specific phylogenetic branch based on the use of conventional diagnostic methods. The present study had to use phylogenetic analysis, which was simplified by determining and using the first 500-bp sequence of the 16S rDNA, to successfully identify the type and species of bacteria found in the samples. Gram-positive bacteria α-, β-, and γ-Proteobacteria were found to be the major groups representing the heterotrophic bacteria in drinking water. The study also revealed that the presence of sphingomonads in drinking water supplies may be much more common than has been reported so far and thus further studies are merited. The intermittent mode of supply, mainly characterized by water stagnation and flow interruption associated possibly with biofilm detachment, raised the possibility that the studied bacterial populations in such systems represented organisms coming from 2 different niches, the biofilm and the water column. © 2005 NRC Canada.Abraham WR, 1999, INT J SYST BACTERIOL, V49, P1053; AMY PS, 1992, APPL ENVIRON MICROB, V58, P3367; Assanta MA, 1998, J FOOD PROTECT, V61, P1321; BEJ AK, 1991, APPL ENVIRON MICROB, V57, P2429; BOTTGER EC, 1989, FEMS MICROBIOL LETT, V65, P171, DOI 10.1016-0378-1097(89)90386-8; Boye K, 1999, MICROBIOL RES, V154, P23; BRAUNHOWLAND EB, 1993, APPL ENVIRON MICROB, V59, P3219; BURKE V, 1984, APPL ENVIRON MICROB, V48, P367; CARSON LA, 1978, APPL ENVIRON MICROB, V36, P839; Chang CT, 2002, APPL ENVIRON MICROB, V68, P3159, DOI 10.1128-AEM.68.6.3159-3161.2002; CLARK J, 1977, CAN J MICROBIOL, V26, P827; Covert TC, 1999, APPL ENVIRON MICROB, V65, P2492; Dewettinck T, 2001, APPL MICROBIOL BIOT, V57, P412, DOI 10.1007-s002530100797; Domingo JWS, 2003, WATER SCI TECHNOL, V47, P149; Fernandez M, 1997, PEDIATR INFECT DIS J, V16, P1007, DOI 10.1097-00006454-199710000-00023; Francis CA, 2001, WATER RES, V35, P3758, DOI 10.1016-S0043-1354(01)00073-2; Furuhata K, 1993, Nihon Koshu Eisei Zasshi, V40, P1047; GELDREICH EE, 1985, J AM WATER WORKS ASS, V77, P72; GILARDI GL, 1984, J CLIN MICROBIOL, V20, P626; HIRAISHI A, 1995, APPL ENVIRON MICROB, V61, P2099; HOLMBERG SD, 1986, ANN INTERN MED, V105, P683; HOLMES B, 1994, J CLIN MICROBIOL, V32, P1970; Holt J. G., 1994, BERGEYS MANUAL DETER; Joseph SW, 2000, ASM NEWS, V66, P218; Kalmbach S, 1999, INT J SYST BACTERIOL, V49, P769; KAYE KM, 1992, CLIN INFECT DIS, V14, P1010; KIM S, 2000, INT J SYST EVOL MICR, V6, P2031; KIROV SM, 1993, INT J FOOD MICROBIOL, V20, P179, DOI 10.1016-0168-1605(93)90164-C; KLINGLER JM, 1992, APPL ENVIRON MICROB, V58, P2089; Kolbert CP, 1999, CURR OPIN MICROBIOL, V2, P299, DOI 10.1016-S1369-5274(99)80052-6; KORVICK JA, 1989, ARCH INTERN MED, V149, P1449, DOI 10.1001-archinte.149.6.1449; Koskinen R, 2000, J APPL MICROBIOL, V89, P687, DOI 10.1046-j.1365-2672.2000.01167.x; Kuhn I, 1997, APPL ENVIRON MICROB, V63, P2708; LANE DJ, 1985, P NATL ACAD SCI USA, V82, P6955, DOI 10.1073-pnas.82.20.6955; Lechevallier M.W., 1980, APPL ENVIRON MICROB, V30, P739; MAKI JS, 1986, APPL ENVIRON MICROB, V51, P1047; Merino S, 1995, INT J FOOD MICROBIOL, V28, P157, DOI 10.1016-0168-1605(95)00054-2; Norton CD, 2000, APPL ENVIRON MICROB, V66, P268; PATT TE, 1976, INT J SYST BACTERIOL, V26, P226; PEARSON WR, 1988, P NATL ACAD SCI USA, V85, P2444, DOI 10.1073-pnas.85.8.2444; Perola O, 2002, J HOSP INFECT, V50, P196, DOI 10.1053-jhin.2001.1163; Pollock TJ, 1999, J IND MICROBIOL BIOT, V23, P436, DOI 10.1038-sj.jim.2900710; REASONER DJ, 1985, APPL ENVIRON MICROB, V49, P1; Rice EW, 2000, J CLIN MICROBIOL, V38, P4296; RUTHERFORD PC, 1988, J CLIN MICROBIOL, V26, P2441; Schubert RHW, 2000, INT J HYG ENVIR HEAL, V203, P83, DOI 10.1078-S1438-4639(04)70012-7; Sekiguchi H, 2002, APPL ENVIRON MICROB, V68, P5142, DOI 10.1128-AEM.68.10.5142-5150.2002; September SM, 2004, APPL ENVIRON MICROB, V70, P7571, DOI 10.1128-AEM.70.12.7571-7573.2004; SPINO DF, 1985, APPL ENVIRON MICROB, V50, P1213; Springer B, 1996, J CLIN MICROBIOL, V34, P296; STACKEBRANDT E, 1988, INT J SYST BACTERIOL, V38, P321; Tang YW, 1998, J CLIN MICROBIOL, V36, P3674; Tokajian S, 2004, WATER QUAL RES J CAN, V39, P64; TOKAJIAN S, 2004, J CHEMOTHERAPY, V16, P104; Tokajian S, 2003, WATER SCI TECHNOL, V47, P229; Tokajian S, 2004, J WATER HEALTH, V2, P115; Ultee A, 2004, J APPL MICROBIOL, V96, P560, DOI 10.1111-j.1365-2672.2004.02174.x; VANDEPEER Y, 1994, COMPUT APPL BIOSCI, V10, P569; Williams MM, 2004, J APPL MICROBIOL, V96, P954, DOI 10.1111-j.1365-2672.2004.02229.x; WINTZINGERODE F, 1999, APPL ENVIRON MICROB, V65, P283; Woo PCY, 2000, J CLIN MICROBIOL, V38, P3515; 1994, MICROBIOLOGICAL EXAM30302
Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene
No full textType 1 diabetes (T1D) is a complex autoimmune disease. Several genetic loci have been implicated in the susceptibility to this illness. Evaluated was the role of the CTLA4 exon 1 A49G polymorphism and its role as a risk factor for T1D in our population. DNA from 190 patients with T1D and their families and 96 control individuals were genotyped for CTLA4 exon 1 polymorphism and human leukocyte antigen (HLA)-DQB1*0201 and*0302 haplotypes by polymerase chain reaction (PCR) amplification-restriction enzyme analysis and PCR amplification that used sequence-specific primers, respectively. Patients were nonobese and andlt;26 years old. The CTLA4 G allele was found to be more frequently present in patients with T1D (32.4percent) as compared with its frequency in control individuals (24.5percent). The GG genotype was also significantly higher among patients (12.6percent) than in controls (4.2percent). χ 2 analysis and family-based association studies were performed and suggested the association of CTLA4 exon 1 G polymorphism with T1D (p = 0.0229). Furthermore, in HLA-DQB1*0201-positive patients with T1D, the GG and AA genotypes were higher and lower, respectively, than those found in control individuals. This study suggests that CTLA4 is a candidate susceptibility gene for T1D. © American Society for Histocompatibility and Immunogenetics, 2004. Published by Elsevier Inc.Abe T, 1999, DIABETES RES CLIN PR, V46, P169, DOI 10.1016-S0168-8227(99)00084-4; Abid HK, 2001, PATHOL BIOL, V49, P794; Badenhoop K, 1996, HUM IMMUNOL, V50, P103, DOI 10.1016-0198-8859(96)00146-2; Bunce M, 1995, TISSUE ANTIGENS, V46, P355, DOI 10.1111-j.1399-0039.1995.tb03127.x; DAVIES JL, 1994, NATURE, V371, P130, DOI 10.1038-371130a0; Donner H, 1997, J CLIN ENDOCR METAB, V82, P143, DOI 10.1210-jc.82.1.143; Dorman J, 1997, Gac Med Mex, V133 Suppl 1, P151; EISENBARTH GS, 1986, NEW ENGL J MED, V314, P1360; Hayashi H, 1999, CLIN ENDOCRINOL, V51, P793, DOI 10.1046-j.1365-2265.1999.00890.x; Horvath S, 2001, EUR J HUM GENET, V9, P301, DOI 10.1038-sj.ejhg.5200625; Ihara K, 2001, IMMUNOGENETICS, V53, P447, DOI 10.1007-s002510100351; Johnson GCL, 2001, NAT GENET, V29, P233, DOI 10.1038-ng1001-233; Kristiansen OP, 2000, GENES IMMUN, V1, P170, DOI 10.1038-sj.gene.6363655; Krokowski M, 1998, DIABETES METAB, V24, P241; Laird NM, 2000, GENET EPIDEMIOL, V19, pS36, DOI 10.1002-1098-2272(2000)19:1+::AID-GEPI63.0.CO;2-M; Larsen ZM, 1999, AUTOIMMUNITY, V31, P35, DOI 10.3109-08916939908993857; Lee YJ, 2000, CLIN ENDOCRINOL, V52, P153, DOI 10.1046-j.1365-2265.2000.00929.x; Mack R, 2001, GENET TEST, V5, P269, DOI 10.1089-10906570152742353; Marron MP, 1997, HUM MOL GENET, V6, P1275, DOI 10.1093-hmg-6.8.1275; Marron MP, 2000, DIABETES, V49, P492, DOI 10.2337-diabetes.49.3.492; NEPOM GT, 1990, DIABETES, V39, P1153, DOI 10.2337-diabetes.39.10.1153; Nistico L, 1996, HUM MOL GENET, V5, P1075, DOI 10.1093-hmg-5.7.1075; OLERUP O, 1993, TISSUE ANTIGENS, V41, P119, DOI 10.1111-j.1399-0039.1993.tb01991.x; Osei-Hyiaman D, 2001, DIABETES, V50, P2169, DOI 10.2337-diabetes.50.9.2169; Rau H, 2001, J CLIN ENDOCR METAB, V86, P653, DOI 10.1210-jc.86.2.653; Redondo MJ, 2001, RECENT PROG HORM RES, V56, P69, DOI 10.1210-rp.56.1.69; Santos JL, 2001, AM J EPIDEMIOL, V153, P794, DOI 10.1093-aje-153.8.794; She JX, 1996, IMMUNOL TODAY, V17, P323, DOI 10.1016-0167-5699(96)10014-1; SHEEHY MJ, 1989, J CLIN INVEST, V83, P830, DOI 10.1172-JCI113965; Ueda H, 2003, NATURE, V423, P506, DOI 10.1038-nature01621; Yanagawa T, 1999, AUTOIMMUNITY, V29, P53, DOI 10.3109-08916939908995972; Zalloua PA, 2002, J CLIN ENDOCR METAB, V87, P3192, DOI 10.1210-jc.87.7.319236363
THE CORRELATION OF THE MEDIEVAL EUROPEAN STATE AND LAW IN THE DOCTRINE OF P.A. KROPOTKIN
No full textThe actual task of Russian state studies and jurisprudence remains the opposition to the ideological and theoretical constructions of Russian classical anarchism. Purpose: to establish the most significant features and disadvantages of P.A. Kropotkin’s interpretation of the correlation of state and law on the example of Medieval Europe. When writing the article, the author applies interdisciplinary and class approaches. General scientific and specific scientific methods are used: historical, problem-theoretical, formal-logical, textual. Materials: monuments of law, other historical sources, foreign and national historiography. The analysis shows that P.A. Kropotkin’s works are characterised not only by a pronounced anti-exploitation pathos, but also by an equally pronounced tendentiousness. Results: aprioriism, anti-statism and antilegism, radical localism, Eurocentrism, diffusionism, cyclism and catastrophism, clothed in the form of postulates, predetermined P.A. Kropotkin’s one-sided interpretations of the interaction of the medieval European state with positive and customary law. In the first case, it took a purely causative form, and in the second, it was predominantly conflictual. These are the key flaws of P.A. Kropotkin’s correlation concept
Predictors of coronary artery disease in the Lebanese population
No full textBackground: Coronary artery disease (CAD) is one of the major causes of morbidity and mortality in the world. The disease is determined by many risk factors such as age, gender, diabetes, dyslipidemia, smoking, as well as elevated serum levels of lipoprotein (a) (Lp(a)), homocysteine, C-reactive protein (CRP) and uric acid. In this study, we evaluated the association of biologic and metabolic parameters with CAD in a group of Lebanese patients. Methods: Three hundred patients were recruited for the study. Biologic and blood metabolic parameters were measured. Patients were then divided into 3 groups according to their catheterization result: 0percent stenosis (controls), 50percent stenosis and ≥ 50percent stenosis. Results: Hyperlipidemias, CRP, homocysteine and uric acid levels in CAD patients were not different from those of the controls. However, age, elevated fasting blood glucose (FBG) and elevated serum Lp(a) levels were found to be strong independent predictors of CAD in our study population. Association with CAD was also shown for gender, hypertension, diabetes and family history of CAD. Conclusion: We report the importance of serum Lp(a) levels and FBG in the prediction and prevention of CAD in our population. © 2005 Elsevier Ltd. All rights reserved.Acarturk E, 2004, CLIN CHIM ACTA, V339, P123, DOI 10.1016-j.cccn.2003.10.001; Albert AL, 2004, BMC CELL BIOL, V5, DOI 10.1186-1471-2121-5-22; American Diabetes Association, 1998, DIABETES CARE, V21, P1551; Anderson JL, 1998, J AM COLL CARDIOL, V32, P35, DOI 10.1016-S0735-1097(98)00203-4; Antonio CM, 1997, BIOCHEM J, V328, P165; Aydenian H, 1999, ANN BIOL CLIN-PARIS, V57, P697; Bhopal R, 1999, BRIT MED J, V319, P215; Bickel C, 2002, AM J CARDIOL, V89, P12, DOI 10.1016-S0002-9149(01)02155-5; Boufidou AI, 2004, CURR MED RES OPIN, V20, P175, DOI 10.1185-030079903125002856; BOUSHEY CJ, 1995, JAMA-J AM MED ASSOC, V274, P1049, DOI 10.1001-jama.274.13.1049; BRAND FN, 1985, AM J EPIDEMIOL, V121, P11; Cooke JP, 1997, ANNU REV MED, V48, P489; Corella Dolores, 2004, Curr Atheroscler Rep, V6, P186, DOI 10.1007-s11883-004-0031-8; Danesh J, 2000, CIRCULATION, V102, P1082; Dangas G, 1999, AM J CARDIOL, V83, P583, DOI 10.1016-S0002-9149(98)00917-5; Durand P, 2001, LAB INVEST, V81, P645; FREEDMAN DS, 1995, AM J EPIDEMIOL, V141, P637; Gazzaruso C, 2001, DIABETIC MED, V18, P589, DOI 10.1046-j.1464-5491.2001.00536.x; Gazzaruso C, 2002, CARDIOVASC DIABETOL, V1, DOI 10.1186-1475-2840-1-5; HAFFNER SM, 1990, JAMA-J AM MED ASSOC, V263, P2893, DOI 10.1001-jama.263.21.2893; Haffner SM, 2000, CIRCULATION, V101, P975; ISRAELSSON B, 1988, ATHEROSCLEROSIS, V71, P227, DOI 10.1016-0021-9150(88)90147-5; KOSTNER GM, 1981, ATHEROSCLEROSIS, V38, P51, DOI 10.1016-0021-9150(81)90103-9; Kukreja N, 2004, INT J CARDIOL, V97, P77, DOI 10.1016-j.ijcard.2003.08.012; Luc G, 2002, ARTERIOSCL THROM VAS, V22, P1155, DOI 10.1161-01.ATV.0000022850.59845.E0; Faglia E, 1997, AM J CARDIOL, V79, P134; National Cholesterol Education Program, 1994, CIRCULATION, V89, P1333; PARRA HJ, 1992, ARTERIOSCLER THROMB, V12, P701; Paultre F, 2000, ARTERIOSCL THROM VAS, V20, P2619; Refsum H, 1998, ANNU REV MED, V49, P31; Rohde LEP, 1999, AM J CARDIOL, V84, P1018, DOI 10.1016-S0002-9149(99)00491-9; RUIZ J, 1994, DIABETOLOGIA, V37, P585, DOI 10.1007-BF00403377; Schwartzman RA, 1998, J AM COLL CARDIOL, V31, P1260, DOI 10.1016-S0735-1097(98)00096-5; Sibai AM, 2003, OBES RES, V11, P1353, DOI 10.1038-oby.2003.183; Gavin JR, 1997, DIABETES CARE, V20, P1183; UBBINK JB, 1991, KLIN WOCHENSCHR, V69, P527, DOI 10.1007-BF01649290; Upchurch GR, 1997, J BIOL CHEM, V272, P17012, DOI 10.1074-jbc.272.27.17012; Wannamethee SG, 1997, HEART, V78, P147; Watson Karol E, 2004, Rev Cardiovasc Med, V5 Suppl 3, pS14; WEINER DA, 1991, AM J CARDIOL, V68, P729, DOI 10.1016-0002-9149(91)90644-Z; WILCKEN DEL, 1983, METABOLISM, V32, P363, DOI 10.1016-0026-0495(83)90045-8118
Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration
No full textBeta thalassemia is an autosomal recessive disorder characterized by reduced (β+) or absent (β0) beta-globin chain synthesis. In Lebanon it is the most predominant genetic defect. In this study we investigated the religious and geographic distribution of the β-thalassemia mutations identified in Lebanon, and traced their precise origins. A total of 520 β-globin chromosomes from patients of different religious and regional backgrounds was studied. Beta thalassemia mutations were identified using Amplification Refractory Mutation System (ARMS) PCR or direct gene sequencing. Six (IVS-I-110, IVS-I-1, IVS-I-6, IVS-II-1, cd 5 and the Candgt;T substitution at cd 29) out of 20 β-globin defects identified accounted for more than 86percent of the total β-thalassemia chromosomes. Sunni Muslims had the highest β-thalassemia carrier rate and presented the greatest heterogeneity, with 16 different mutations. Shiite Muslims followed closely with 13 mutations, whereas Maronites represented 11.9percent of all β-thalassemic subjects and carried 7 different mutations. RFLP haplotype analysis showed that the observed genetic diversity originated from both new mutational events and gene flow from population migration. This study provides information about the types and distribution of β-thalassemia mutations within each religious group and geographic region, which is essential for the implementation of screening and prevention programs. © University College London 2004.BAYSAL E, 1992, BRIT J HAEMATOL, V81, P607, DOI 10.1111-j.1365-2141.1992.tb03000.x; BENNANI C, 1994, HUM BIOL, V66, P369; BOEHM CD, 1986, BLOOD, V67, P1185; BOLETINI E, 1994, HUM GENET, V93, P182; Bravo M, 1999, Invest Clin, V40, P203; CABANNES R, 1965, NOUV REV FR HEMATOL, V5, P851; CAO A, 1989, BRIT J HAEMATOL, V71, P309; CHEHAB FF, 1987, BLOOD, V69, P1141; CURUK MA, 1992, HUM GENET, V90, P417; DIAZCHICO JC, 1988, BLOOD, V71, P248; DIMOVSKI A, 1990, HEMOGLOBIN, V14, P15, DOI 10.3109-03630269009002251; EFREMOV GD, 1992, HEMATOL REV, V6, P83; ElHazmi MAF, 1995, HEMOGLOBIN, V19, P353, DOI 10.3109-03630269509005827; ELKALLA S, 1993, HEMOGLOBIN, V17, P355, DOI 10.3109-03630269308997488; El-Latif Mahmoud Abd, 2002, Hemoglobin, V26, P33, DOI 10.1081-HEM-120002938; FAA V, 1992, PRENATAL DIAG, V12, P903, DOI 10.1002-pd.1970121109; FATTOUM S, 1991, HEMOGLOBIN, V15, P11, DOI 10.3109-03630269109072481; FELSENSTEIN J, 1993, PHYLIP; FILON D, 1994, AM J HUM GENET, V54, P836; Haldane JBS, 1949, HEREDITAS S, V35, P267, DOI DOI 10.1111-J.1601-5223.1949.TB03339.X); HAMAMY H, 1994, B WORLD HEALTH ORGAN, V72, P145; Huisman TH, 1997, SYLLABUS THALASSEMIA; INDRAK K, 1992, HUM GENET, V88, P399, DOI 10.1007-BF00215673; KATTAMIS C, 1990, BRIT J HAEMATOL, V74, P342, DOI 10.1111-j.1365-2141.1990.tb02593.x; KLAT M, 1986, SOC BIOL, V33, P138; MILLER SA, 1988, NUCLEIC ACIDS RES, V16, P1215, DOI 10.1093-nar-16.3.1215; NEWTON CR, 1989, NUCLEIC ACIDS RES, V17, P2503, DOI 10.1093-nar-17.7.2503; Old JM, 2001, HEMOGLOBIN, V25, P397, DOI 10.1081-HEM-100107877; ORKIN SH, 1982, NATURE, V296, P627, DOI 10.1038-296627a0; Perrin P, 1998, GENE, V213, P169, DOI 10.1016-S0378-1119(98)00200-5; RAFIE L, 1984, INT RED CROSS; RINGELHANN B, 1993, HUM GENET, V92, P385, DOI 10.1007-BF01247340; ROSATELLI MC, 1992, HUM GENET, V89, P585; ROSATELLI MC, 1992, AM J HUM GENET, V50, P422; Sadiq MF, 2001, AM J HEMATOL, V68, P16, DOI 10.1002-ajh.1143; Tadmouri GO, 1998, AM J HEMATOL, V57, P215, DOI 10.1002-(SICI)1096-8652(199803)57:3215::AID-AJH63.0.CO;2-Y; Tadmouri GO, 2001, HUM BIOL, V73, P661, DOI 10.1353-hub.2001.0075; TALEB N, 1964, CR HEBD ACAD SCI, V258, P5749; VARAWALLA NY, 1992, HUM GENET, V90, P443; WAYE JS, 1994, HEMOGLOBIN, V18, P383, DOI 10.3109-03630269409045770; WEATHERALL DJ, 1981, THALASSEMIA SYNDROMS; Zahed L, 2002, HUM BIOL, V74, P837, DOI 10.1353-hub.2003.0013; Zahed L, 1997, HUM HERED, V47, P241, DOI 10.1159-00015441912131
WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon
No full textMost cases of juvenile-onset diabetes (JOD) are diagnosed as type 1 diabetes (T1D), for which genetic studies conducted in outbred Caucasian populations support the concept of multifactorial inheritance. However, this view may be partly challenged in particular population settings. In view of the suggestive evidence for a high prevalence of Wolfram syndrome (WFS) in Lebanon, the phenotypic variability associated with WFS1 mutations, and the high consanguinity rate in Lebanon, we aimed to evaluate the contribution of WFS1 mutations as monogenic determinants to JOD in Lebanon. We performed a family-based genetic study, with linkage analysis followed by systematic mutation screening of WFS1 exons in all JOD probands. The study population consisted of an unbiased recruitment of all juvenile-onset insulin-dependent diabetic patients from a specialized diabetes pediatric clinic in Beirut, Lebanon. Homozygous or compound heterozygous WFS1 mutations were found in 22 of the 399 JOD probands (5.5percent), resulting in WFS (17 probands) or in non-syndromic non-autoimmune diabetes mellitus (DM, five probands). These accounted for 12.1percent (21-174) of probands in consanguineous families, compared with 0.4percent (1-225) in non-consanguineous families. Of the 38 patients identified with homozygous or compound heterozygous WFS1 mutations, 11 (29percent) had non-syndromic DM, all of whom carried a particular WFS1 mutation, WFS1LIB, encoding a protein with an extended C-terminal domain. This mutation resulted in a delayed onset or absence of extrapancreatic features. These results underscore the major impact of population-specific factors, such as population-specific mutations and founder effects, and family structure in the genetic determinism of JOD. © The Author 2008. Published by Oxford University Press. All rights reserved.Abchee A, 2006, THROMB RES, V117, P631, DOI 10.1016-j.thromres.2005.05.022; Abecasis GR, 2002, NAT GENET, V30, P97, DOI 10.1038-ng786; Alberti KGMM, 1998, DIABETIC MED, V15, P539, DOI 10.1002-(SICI)1096-9136(199807)15:7539::AID-DIA6683.0.CO;2-S; Awata T, 2000, BIOCHEM BIOPH RES CO, V268, P612, DOI 10.1006-bbrc.2000.2169; Barrett TG, 2007, PEDIATR DIABETES, V8, P15, DOI 10.1111-j.1399-5448.2007.00278.x; BARRETT TG, 2007, PEDIAT DIABETES S6, V6, P15; BARRETT TG, 1995, LANCET, V346, P1458, DOI 10.1016-S0140-6736(95)92473-6; BU XD, 1993, LANCET, V342, P598, DOI 10.1016-0140-6736(93)91416-J; Cano A, 2007, AM J MED GENET A, V143A, P1605, DOI 10.1002-ajmg.a.31809; Concannon P, 2005, DIABETES, V54, P2995, DOI 10.2337-diabetes.54.10.2995; Cryns K, 2003, HUM MUTAT, V22, P275, DOI 10.1002-humu.10258; Fonseca SG, 2005, J BIOL CHEM, V280, P39609, DOI 10.1074-jbc.M507426200; Franks PW, 2008, DIABETOLOGIA, V51, P458, DOI 10.1007-s00125-007-0887-6; Hansen L, 2005, EUR J HUM GENET, V13, P1275, DOI 10.1038-sj.ejhg.5201491; Hardy C, 1999, AM J HUM GENET, V65, P1279, DOI 10.1086-302609; Hofmann S, 1997, GENOMICS, V39, P8, DOI 10.1006-geno.1996.4474; Hofmann S, 2003, HUM MOL GENET, V12, P2003, DOI 10.1093-hmg-ddg214; Inoue H, 1998, NAT GENET, V20, P143, DOI 10.1038-2441; Ishihara H, 2004, HUM MOL GENET, V13, P1159, DOI 10.1093-hmg-ddh125; Jalkh N, 2008, ANN HUM GENET, V72, P41, DOI 10.1111-j.1469-1809.2007.00386.x; Khanim F, 2001, HUM MUTAT, V17, P357, DOI 10.1002-humu.1110; KHLAT M, 1988, AM J HUM GENET, V43, P188; Makhoul NJ, 2005, ANN HUM GENET, V69, P55, DOI 10.1046-j.1529-8817.2004.00138.x; Medlej R, 2004, J CLIN ENDOCR METAB, V89, P1656, DOI 10.1210-jc.2002-030015; Murphy R, 2008, NAT CLIN PRACT ENDOC, V4, P200, DOI 10.1038-ncpendmet0778; O'Connell JR, 1998, AM J HUM GENET, V63, P259, DOI 10.1086-301904; Osman AA, 2003, J BIOL CHEM, V278, P52755, DOI 10.1074-jbc.M310331200; Purcell S, 2007, AM J HUM GENET, V81, P559, DOI 10.1086-519795; Qu HQ, 2008, DIABETES, V57, P1983, DOI 10.2337-db08-0270; RICH SS, 1990, DIABETES, V39, P1315, DOI 10.2337-diabetes.39.11.1315; Sam W, 2001, CLIN GENET, V59, P136, DOI 10.1034-j.1399-0004.2001.590214.x; Sandhu MS, 2007, NAT GENET, V39, P951, DOI 10.1038-ng2067; Shi YG, 2003, ENDOCR REV, V24, P91, DOI 10.1210-er.2002-0018; Slingerland AS, 2006, REV ENDOCR METAB DIS, V7, P171, DOI 10.1007-s11154-006-9014-0; Strom TM, 1998, HUM MOL GENET, V7, P2021, DOI 10.1093-hmg-7.13.2021; Sunyaev S, 2001, HUM MOL GENET, V10, P591, DOI 10.1093-hmg-10.6.591; Takahashi Masazumi, 2003, J Bioinform Comput Biol, V1, P253, DOI 10.1142-S021972000300006X; Todd JA, 2007, NAT GENET, V39, P857, DOI 10.1038-ng2068; Yamada T, 2006, HUM MOL GENET, V15, P1600, DOI 10.1093-hmg-ddl081; Zalloua PA, 2002, J CLIN ENDOCR METAB, V87, P3192, DOI 10.1210-jc.87.7.3192; Zalloua PA, 2003, J PEDIATR ENDOCR MET, V16, P759; Zatyka M, 2008, HUM MOL GENET, V17, P190, DOI 10.1093-hmg-ddm29617161
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