HD100CAU HUMAN VARIATION PANEL

Description: HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100

Aliquot Size: 10 µg each

Sex: Males: 51 Females: 49

Brief Description: The Caucasian Panel of 100 consists of samples of 100 self-declared Caucasians who are unrelated and apparently healthy. There are 49 females and 51 males in this panel. The individual cell cultures of this panel are labeled GM17201 to GM17300 and the DNA samples are labeled NA17201 to NA17300.

Some samples in the Human Variation Collection have been assigned a second catalogue number to indicate inclusion in the Human Variation Collection in addition to their original catalogue number. A complete list of the alternative sample numbers can be downloaded as an Excel file.

Paterson DS, Serotonin gene variants are unlikely to play a significant role in the pathogenesis of the sudden infant death syndrome. Respir Physiol Neurobiol.189(2):301-14 2013
PubMed ID: 23851109
 
Wu TY, Fridley BL, Jenkins GD, Batzler A, Wang L, Weinshilboum RM, Mycophenolic acid response biomarkers: a cell line model system-based genome-wide screen International immunopharmacology11:1057-64 2011
PubMed ID: 21396482
 
Pelleymounter LL, Moon I, Johnson JA, Laederach A, Halvorsen M, Eckloff B, Abo R, Rossetti S, A novel application of pattern recognition for accurate SNP and indel discovery from high-throughput data: Targeted resequencing of the glucocorticoid receptor co-chaperone FKBP5 in a Caucasian population Molecular genetics and metabolism11:1057-64 2011
PubMed ID: 21917492
 
Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim JE, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A, Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development PloS one6:e22542 2010
PubMed ID: 21799892
 
Cresci S, Huss JM, Beitelshees AL, Jones PG, Minton MR, Dorn GW, Kelly DP, Spertus JA, McLeod HL, A PPARa promoter variant impairs ERR-dependent transactivation and decreases mortality after acute coronary ischemia in patients with diabetes PloS one5:e12584 2010
PubMed ID: 20838448
 
Pereira NL, Aksoy P, Moon I, Peng Y, Redfield MM, Burnett JC, Wieben ED, Yee VC, Weinshilboum RM, Natriuretic peptide pharmacogenetics: membrane metallo-endopeptidase (MME): common gene sequence variation, functional characterization and degradation Journal of molecular and cellular cardiology49:864-74 2010
PubMed ID: 20692264
 
Fridley BL, Jenkins G, Deyo-Svendsen ME, Hebbring S, Freimuth R, Utilizing genotype imputation for the augmentation of sequence data PloS one5:e11018 2009
PubMed ID: 20543988
 
Bush, W.S., Crawford, D.C., Alexander, C., George, A.L., Roden, D.M., and Ritchie, M.D., Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias Pharmacogenomics10(6):1043-53 2009
PubMed ID: 19530973
 
Arefayene, M., Philips, S., Cao, D., Mamidipalli, S. Desta, Z., Flockhart, D.A., Wilkes, D.S. and Skaar, T.C., Identification of genetic variants in the human indoleamine 2,3-dioxygenase (IDO1) gene, which have altered enzyme activity Pharmacogenetics and Genomics19:464-476 2009
PubMed ID: 19514129
 
Broadbelt, K.G., Barger, M.A., Paterson, D.S., Holm, I.A., Haas, E.A., Krous, H.F., Kinney, H.C., Markianos, K. and Beggs, A.H., Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population Pediatric Research66(6):631-35 2009
PubMed ID: 19707175
 
Wang L, Kumar S, Fridley BL, Kalari KR, Moon I, Pelleymounter LL, Hildebrandt MA, Batzler A, Eckloff BW, Wieben ED, Greipp PR, Proteasome {beta} Subunit Pharmacogenomics: Gene Resequencing and Functional Genomics Clinical cancer research : an official journal of the American Association for Cancer Research14:3503-3513 2008
PubMed ID: 18519783
 
Tomasson MH, Xiang Z, Walgren R, Zhao Y, Kasai Y, Miner T, Ries RE, Lubman O, Fremont DH, McLellan MD, Payton JE, Westervelt P, DiPersio JF, Link DC, Walter MJ, Graubert TA, Watson M, Baty J, Heath S, Shannon WD, Nagarajan R, Bloomfield CD, Mardis ER, Wilson RK, Ley TJ, Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia Blood111:4797-808 2008
PubMed ID: 18270328
 
Moyer AM, Salavaggione OE, Wu TY, Moon I, Eckloff BW, Hildebrandt MA, Schaid DJ, Wieben ED, Weinshilboum RM, Glutathione s-transferase p1: gene sequence variation and functional genomic studies Cancer research68:4791-801 2008
PubMed ID: 18559526
 
Kocabas NA, Aksoy P, Pelleymounter LL, Moon I, Ryu JS, Gilbert JA, Salavaggione OE, Eckloff BW, Wieben ED, Yee V, Weinshilboum RM, Ames MM, Gemcitabine Pharmacogenomics: Deoxycytidine Kinase (DCK) and Cytidylate Kinase (CMPK) Gene Resequencing and Functional Genomics Drug metabolism and disposition: the biological fate of chemicals68:4791-801 2008
PubMed ID: 18556440
 
Moyer AM, Salavaggione OE, Hebbring SJ, Moon I, Hildebrandt MA, Eckloff BW, Schaid DJ, Wieben ED, Weinshilboum RM, Glutathione S-transferase T1 and M1: gene sequence variation and functional genomics Clinical cancer research : an official journal of the American Association for Cancer Research13:7207-16 2007
PubMed ID: 18056202
 
Leil TA, Endo C, Adjei AA, Dy GK, Salavaggione OE, Reid JR, Ames MM, Adjei AA, Identification and characterization of genetic variation in the folylpolyglutamate synthase gene Cancer research67:8772-82 2007
PubMed ID: 17875718
 
Bigler J, Sibert JG, Poole EM, Carlson CS, Potter JD, Ulrich CM, Polymorphisms predicted to alter function in prostaglandin E2 synthase and prostaglandin E2 receptors Pharmacogenetics and genomics17:221-7 2007
PubMed ID: 17460551
 
Ji Y, Moon I, Zlatkovic J, Salavaggione OE, Thomae BA, Eckloff BW, Wieben ED, Schaid DJ, Weinshilboum RM, Human Hydroxysteroid Sulfotransferase SULT2B1 Pharmacogenomics: Gene Sequence Variation and Functional Genomics Journal of pharmacology and experimental therapeutics17:221-7 2007
PubMed ID: 17496163
 
Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS, Mutations in the SBDS gene in acquired aplastic anemia mutation17:221-7 2007
PubMed ID: 17478638
 
Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ, Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome Circulation116:2253-9 2007
PubMed ID: 17967976
 
Wood TC, Salavagionne OE, Mukherjee B, Wang L, Klumpp AF, Thomae BA, Eckloff BW, Schaid DJ, Wieben ED, Weinshilboum RM, Human arsenic methyltransferase (AS3MT) pharmacogenetics: gene resequencing and functional genomics studies The Journal of biological chemistry281:7364-73 2006
PubMed ID: 16407288
 
Martin YN, Salavaggione OE, Eckloff BW, Wieben ED, Schaid DJ, Weinshilboum RM, Human methylenetetrahydrofolate reductase pharmacogenomics: gene resequencing and functional genomics Pharmacogenetics and genomics16:265-77 2006
PubMed ID: 16538173
 
Hebbring SJ, Adjei AA, Baer JL, Jenkins GD, Zhang J, Cunningham JM, Schaid DJ, Weinshilboum RM, Thibodeau SN, Human SULT1A1 gene: copy number differences and functional implications Human molecular genetics16:463-70 2006
PubMed ID: 17189289
 
Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, Prakasa K, Towbin JA, Marcus FI, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP, Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2 Circulation113:1641-9 2006
PubMed ID: 16549640
 
Gilbert JA, Salavaggione OE, Ji Y, Pelleymounter LL, Eckloff BW, Wieben ED, Ames MM, Weinshilboum RM, Gemcitabine pharmacogenomics: cytidine deaminase and deoxycytidylate deaminase gene resequencing and functional genomics Clinical cancer research : an official journal of the American Association for Cancer Research12:1794-803 2006
PubMed ID: 16551864
 
Wang B, Ngoi S, Wang J, Chong SS, Lee CG, The promoter region of the MDR1 gene is largely invariant, but different single nucleotide polymorphism haplotypes affect MDR1 promoter activity differently in different cell lines Molecular pharmacology70:267-76 2006
PubMed ID: 16608921
 
Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS, Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med352(14):1413-24 2005
PubMed ID: 15814878
 
Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ, Modification of human hearing loss by plasma-membrane calcium pump PMCA2. N Engl J Med352(15):1557-64 2005
PubMed ID: 15829536
 
Damaraju S, Zhang J, Visser F, Tackaberry T, Dufour J, Smith KM, Slugoski M, Ritzel MW, Baldwin SA, Young JD, Cass CE, Identification and functional characterization of variants in human concentrative nucleoside transporter 3, hCNT3 (SLC28A3), arising from single nucleotide polymorphisms in coding regions of the hCNT3 gene. Pharmacogenet Genomics15(3):173-82 2005
PubMed ID: 15861042
 
Ma S, Abou-Khalil B, Sutcliffe JS, Haines JL, Hedera P, The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures. BMC Med Genet6(1):13 2005
PubMed ID: 15799783
 
Service S, DeYoung J, Karayiorgou M, Roos JL, Pretorious H, Bedoya G, Ospina J, Ruiz-Linares A, Macedo A, Palha JA, Heutink P, Aulchenko Y, Oostra B, van Duijn C, Jarvelin MR, Varilo T, Peddle L, Rahman P, Piras G, Monne M, Murray S, Galver L, Peltonen L, Sabatti C, Collins A, Freimer N, Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies Nature genetics38:556-60 2005
PubMed ID: 16582909
 
Van Driest SL, Gakh O, Ommen SR, Isaya G, Ackerman MJ, Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy. Mol Genet Metab85(4):280-5 2005
PubMed ID: 15936968
 
Yuan HY, Chen JJ, Lee MT, Wung JC, Chen YF, Charng MJ, Lu MJ, Hung CR, Wei CY, Chen CH, Wu JY, Chen YT, A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity. Hum Mol Genet14(13):1745-51 2005
PubMed ID: 15888487
 
Tian H, Emrich CA, Scherer JR, Mathies RA, Andersen PS, Larsen LA, Christiansen M, High-throughput single-strand conformation polymorphism analysis on a microfabricated capillary array electrophoresis device Electrophoresis26:1834-42 2005
PubMed ID: 15706574
 
Anderle P, Nielsen CU, Pinsonneault J, Krog PL, Brodin B, Sadée W, Genetic variants of the human dipeptide transporter PEPT1 The Journal of pharmacology and experimental therapeutics316:636-46 2005
PubMed ID: 16258023
 
Lee SJ, Bell DA, Coulter SJ, Ghanayem B, Goldstein JA, Recombinant CYP3A4*17 is defective in metabolizing the hypertensive drug nifedipine, and the CYP3A4*17 allele may occur on the same chromosome as CYP3A5*3, representing a new putative defective CYP3A haplotype The Journal of pharmacology and experimental therapeutics313:302-9 2005
PubMed ID: 15634941
 
O'Leary VB, Mills JL, Parle-McDermott A, Pangilinan F, Molloy AM, Cox C, Weiler A, Conley M, Kirke PN, Scott JM, Brody LC, Birth Defects Research Group LC, Screening for new MTHFR polymorphisms and NTD risk American journal of medical genetics Part A138:99-106 2005
PubMed ID: 16145688
 
Rieder MJ, Reiner AP, Gage BF, Nickerson DA, Eby CS, McLeod HL, Blough DK, Thummel KE, Veenstra DL, Rettie AE, Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose The New England journal of medicine352:2285-93 2005
PubMed ID: 15930419
 
Wang Z, Wang B, Tang K, Lee EJ, Chong SS, Lee CG, A functional polymorphism within the MRP1 gene locus identified through its genomic signature of positive selection Human molecular genetics14:2075-87 2005
PubMed ID: 15944197
 
Tahira T, Baba S, Higasa K, Kukita Y, Suzuki Y, Sugano S, Hayashi K, dbQSNP: a database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based methods Human mutation26:69-77 2005
PubMed ID: 15977179
 
Ma CX, Adjei AA, Salavaggione OE, Coronel J, Pelleymounter L, Wang L, Eckloff BW, Schaid D, Wieben ED, Adjei AA, Weinshilboum RM, Human aromatase: gene resequencing and functional genomics. Cancer Res65(23):11071-82 2005
PubMed ID: 16322257
 
Freimuth RR, Xiao M, Marsh S, Minton M, Addleman N, Van Booven DJ, McLeod HL, Kwok PY, Polymorphism discovery in 51 chemotherapy pathway genes Human molecular genetics14:3595-603 2005
PubMed ID: 16239245
 
Hamilton SP, Woo JM, Carlson EJ, Ghanem N, Ekker M, Rubenstein JL, Analysis of four DLX homeobox genes in autistic probands BMC genetics [electronic resource]6:52 2005
PubMed ID: 16266434
 
Ji Y, Salavaggione OE, Wang L, Adjei AA, Eckloff B, Wieben ED, Weinshilboum RM, Human phenylethanolamine N-methyltransferase pharmacogenomics: gene re-sequencing and functional genomics Journal of neurochemistry95:1766-76 2005
PubMed ID: 16277617
 
Tester DJ, Kopplin LJ, Creighton W, Burke AP, Ackerman MJ, Pathogenesis of unexplained drowning: new insights from a molecular autopsy Mayo Clinic proceedings Mayo Clinic80:596-600 2005
PubMed ID: 15887426
 
Porton B, Ferreira A, DeLisi LE, Kao HT, A rare polymorphism affects a mitogen-activated protein kinase site in synapsin III: possible relationship to schizophrenia Biological psychiatry55:118-25 2004
PubMed ID: 14732590
 
Feng JH, Yamamoto T, Nanba E, Ninomiya H, Oka A, Ohno K, Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation Human mutation23:397 2004
PubMed ID: 15024740
 
Ohmori H, Ando Y, Makita Y, Onouchi Y, Nakajima T, Saraiva MJ, Terazaki H, Suhr O, Sobue G, Nakamura M, Yamaizumi M, Munar-Ques M, Inoue I, Uchino M, Hata A, Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy Journal of medical genetics41:e51 2004
PubMed ID: 15060127
 
Dressman MA, Malinowski R, McLean LA, Gathmann I, Capdeville R, Hensley M, Polymeropoulos MH, International Randomized Study of Interferon-alpha versus ST1571 Study Group MH, Correlation of major cytogenetic response with a pharmacogenetic marker in chronic myeloid leukemia patients treated with imatinib (STI571) Clinical cancer research : an official journal of the American Association for Cancer Research10:2265-71 2004
PubMed ID: 15073101
 
Stimpson DI, Knepper SM, Shida M, Obata K, Tajima H, Three-dimensional microarray platform applied to single nucleotide polymorphism analysis Biotechnology and bioengineering87:99-103 2004
PubMed ID: 15211493
 
Sakagami T, Witherspoon DJ, Nakajima T, Jinnai N, Wooding S, Jorde LB, Hasegawa T, Suzuki E, Gejyo F, Inoue I, Local adaptation and population differentiation at the interleukin 13 and interleukin 4 loci Genes and immunity5:389-97 2004
PubMed ID: 15215888
 
Shield AJ, Thomae BA, Eckloff BW, Wieben ED, Weinshilboum RM, Human catechol O-methyltransferase genetic variation: gene resequencing and functional characterization of variant allozymes Molecular psychiatry9:151-60 2004
PubMed ID: 14966473
 
Anson BD, Ackerman MJ, Tester DJ, Will ML, Delisle BP, Anderson CL, January CT, Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels American journal of physiology Heart and circulatory physiology286:H2434-41 2004
PubMed ID: 14975928
 
Tang K, Wong LP, Lee EJ, Chong SS, Lee CG, Genomic evidence for recent positive selection at the human MDR1 gene locus Human molecular genetics13:783-97 2004
PubMed ID: 14976162
 
Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ, Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy Journal of the American College of Cardiology44:602-10 2004
PubMed ID: 15358028
 
Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ, Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy Journal of the American College of Cardiology44:1903-10 2004
PubMed ID: 15519027
 
Pinsonneault, J., Nielsen, C.U. and Sadee, W., Genetic variants of the human H+/dipeptide transporter PEPT2: analysis of haplotype functions J Pharmacology and Experimental Therapeutics311:1088-1096 2004
PubMed ID: 15282265
 
Mori M, Yamada R, Kobayashi K, Kawaida R, Yamamoto K, Ethnic differences in allele frequency of autoimmune-disease-associated SNPs Journal of human genetics50:264-6 2004
PubMed ID: 15883854
 
Pipo JR, Feng JH, Yamamoto T, Ohsaki Y, Nanba E, Tsujino S, Sakuragawa N, Martiniuk F, Ninomiya H, Oka A, Ohno K, New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol29(4):284-7 2003
PubMed ID: 14643388
 
Hosono S, Faruqi AF, Dean FB, Du Y, Sun Z, Wu X, Du J, Kingsmore SF, Egholm M, Lasken RS, Unbiased whole-genome amplification directly from clinical samples. Genome Res13(5):954-64 2003
PubMed ID: 12695328
 
Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM, Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet33(1):97-101 2003
PubMed ID: 12496757
 
Hardenbol P, Banér J, Jain M, Nilsson M, Namsaraev EA, Karlin-Neumann GA, Fakhrai-Rad H, Ronaghi M, Willis TD, Landegren U, Davis RW, Multiplexed genotyping with sequence-tagged molecular inversion probes Nature biotechnology21:673-8 2003
PubMed ID: 12730666
 
Bergen AW, Yeager M, Welch R, Ganjei JK, Deep-Soboslay A, Haque K, van den Bree MB, Goldman D, Berrettini WH, Kaye WH, The Price Foundation Collaborative Group (www.anbn.org) WH, Candidate gene analysis of the Price Foundation anorexia nervosa affected relative pair dataset Current drug targets CNS and neurological disorders2:41-51 2003
PubMed ID: 12769811
 
Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ, Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy Circulation108:445-51 2003
PubMed ID: 12860912
 
Adjei AA, Thomae BA, Prondzinski JL, Eckloff BW, Wieben ED, Weinshilboum RM, Human estrogen sulfotransferase (SULT1E1) pharmacogenomics: gene resequencing and functional genomics British journal of pharmacology139:1373-82 2003
PubMed ID: 12922923
 
Makielski JC, Ye B, Valdivia CR, Pagel MD, Pu J, Tester DJ, Ackerman MJ, A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels Circulation research93:821-8 2003
PubMed ID: 14500339
 
Gazzoli I, Kolodner RD, Regulation of the human MSH6 gene by the Sp1 transcription factor and alteration of promoter activity and expression by polymorphisms Molecular and cellular biology23:7992-8007 2003
PubMed ID: 14585961
 
Thomae BA, Rifki OF, Theobald MA, Eckloff BW, Wieben ED, Weinshilboum RM, Human catecholamine sulfotransferase (SULT1A3) pharmacogenetics: functional genetic polymorphism Journal of neurochemistry87:809-19 2003
PubMed ID: 14622112
 
Ho RH, Leake BF, Roberts RL, Lee W, Kim RB, Ethnicity-dependent polymorphism in Na+-taurocholate cotransporting polypeptide (SLC10A1) reveals a domain critical for bile acid substrate recognition The Journal of biological chemistry279:7213-22 2003
PubMed ID: 14660639
 
Glatt CE, Tampilic M, Christie C, DeYoung J, Freimer NB, Re-screening serotonin receptors for genetic variants identifies population and molecular genetic complexity American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics124:92-100 2003
PubMed ID: 14681923
 
Thomae BA, Eckloff BW, Freimuth RR, Wieben ED, Weinshilboum RM, Human sulfotransferase SULT2A1 pharmacogenetics: genotype-to-phenotype studies The pharmacogenomics journal2:48-56 2002
PubMed ID: 11990382
 
Weston A, Ensey J, Kreiss K, Keshava C, McCanlies E, Racial differences in prevalence of a supratypic HLA-genetic marker immaterial to pre-employment testing for susceptibility to chronic beryllium disease American journal of industrial medicine41:457-65 2002
PubMed ID: 12173370
 
Peters LM, Anderson DW, Griffith AJ, Grundfast KM, San Agustin TB, Madeo AC, Friedman TB, Morell RJ, Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. Hum Mol Genet11(23):2877-85 2002
PubMed ID: 12393799
 
Van Driest SL, Will ML, Atkins DL, Ackerman MJ, A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood. Am J Cardiol90(10):1123-7 2002
PubMed ID: 12423715
 
Dean FB, Hosono S, Fang L, Wu X, Faruqi AF, Bray-Ward P, Sun Z, Zong Q, Du Y, Du J, Driscoll M, Song W, Kingsmore SF, Egholm M, Lasken RS, Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci U S A99(8):5261-6 2002
PubMed ID: 11959976
 
Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA, Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA286(18):2264-9 2001
PubMed ID: 11710892
 
Tanus-Santos JE, Desai M, Flockhart DA, Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants. Pharmacogenetics11(8):719-25 2001
PubMed ID: 11692081
 
Lucas, J.L. and Sadee, W., Single Nucleotide Polymorphisms of the Human M1 Muscarinic Acetylcholine Receptor Gene AAPS PharmSci3(4):article 31 2001
PubMed ID: 12049494
 
Heinimann K, Thompson A, Locher A, Furlanetto T, Bader E, Wolf A, Meier R, Walter K, Bauerfeind P, Marra G, Muller H, Foernzler D, Dobbie Z, Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis. Cancer Res61(20):7616-22 2001
PubMed ID: 11606402

Catalog IDSexAge at SamplingFamilyRelationshipGeneMutationAffected
NA17201Male25 YR700   No
NA17286Female73 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17289Female73 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17242Female65 YR    No
NA17247Female65 YR  HLA-BHLA-B*5701 (Mono)No
NA17251Female63 YR    No
NA17233Female56 YR    No
NA17279Female54 YR    No
NA17218Female51 YR    No
NA17273Female51 YR    No
NA17290Female5 YR  HLA-BHLA-B*5701 (Mono)No
NA17224Female48 YR    No
NA17245Female48 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17246Female46 YR  CYP2C19, CYP2D6IVSDS3, G>A, +1 (Mono), TRP120ARG (Mono)No
NA17215Female44 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17217Female44 YR    No
NA17230Female37 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17250Female35 YR    No
NA17238Female34 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17266Female34 YR    No
NA17267Female34 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17229Female33 YR    No
NA17294Female33 YR    No
NA17208Female32 YR    No
NA17257Female32 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17262Female32 YR    No
NA17234Female31 YR    No
NA17252Female28 YR  CYP2C9, CYP2D615489579A>C (Mono), IVSDS3, G>A, +1 (Mono)No
NA17260Female28 YR    No
NA17261Female28 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17284Female28 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17239Female27 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17258Female27 YR    No
NA17213Female26 YR    No
NA17236Female26 YR  CYP2D62850C>T (Mono), ARG296CYS AND SER486THR (Mono)No
NA17263Female26 YR    No
NA17265Female25 YR    No
NA17256Female24 YR    No
NA17296Female24 YR  CYP2D62613_2615delAGA (Mono)No
NA17202Female23 YR    No
NA17204Female23 YR    No
NA17206Female23 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17209Female23 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17210Female22 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17216Female22 YR    No
NA17221Female22 YR  CYP2C9, CYP2D615489579A>C (Mono), DUP (Mono)No
NA17275Female22 YR    No
NA17277Female22 YR    No
NA17293Female20 YR  CYP2D62613_2615delAGA (Mono)No
NA17274Female19 YR  CYP2D6ARG296CYS AND SER486THR (Mono)No
NA17299Female     No
NA17228Male75 YR    No
NA17292Male73 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17285Male69 YR    No
NA17222Male68 YR    No
NA17211Male65 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17237Male63 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17281Male63 YR  CYP2D62613_2615delAGA (Mono)No
NA17300Male63 YR  CYP2D61-BP DEL, 1707T (Mono)No
NA17240Male60 YR  CYP2D6, HLA-BHLA-B*5701 (Mono), PRO34SER (Mono)No
NA17297Male60 YR    No
NA17255Male6 YR    No
NA17223Male57 YR    No
NA17248Male55 YR  CYP2D6IVSDS3, G>A, +1 (Mono), PRO34SER (Mono)No
NA17269Male55 YR    No
NA17287Male54 YR    No
NA17243Male52 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17212Male51 YR    No
NA17254Male45 YR    No
NA17244Male44 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17249Male44 YR    No
NA17259Male44 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17271Male44 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17298Male44 YR    No
NA17241Male40 YR    No
NA17225Male37 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17220Male36 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17226Male36 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17270Male34 YR    No
NA17214Male33 YR    No
NA17219Male33 YR    No
NA17291Male33 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17235Male31 YR  CYP2D6DEL (Mono)No
NA17283Male31 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17288Male31 YR  HLA-BHLA-B*5701 (Mono)No
NA17295Male31 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17282Male30 YR    No
NA17207Male28 YR    No
NA17231Male28 YR    No
NA17203Male27 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17232Male27 YR    No
NA17253Male27 YR    No
NA17205Male26 YR    No
NA17268Male26 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17264Male25 YR  CYP2D6IVSDS3, G>A, +1 (Mono)No
NA17227Male18 YR  CYP2D62613_2615delAGA (Mono)No
NA17272Male17 YR  CYP2D6IVSDS3, G>A, +1 (Mono), PRO34SER (Mono)No
NA17278Male17 YR    No
NA17276Male15 YR  CYP2D6DEL (Mono)No
NA17280Male   CYP2C19, CYP2D61-BP DEL, 2549A (Mono), ARG296CYS AND SER486THR (Mono), TRP120ARG (Mono)No