HD07 HUMAN VARIATION PANEL

Description: HUMAN VARIATION PANEL - JAPANESE

Aliquot Size: 10 µg each

Sex: Males: 4 Females: 6

Brief Description: 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.
Visscher, H., Ross, C.J.D., Dube, M-P., Brown, A.M.K., Phillips, M.S., Carleton, B.C., and Hayden, M.R., Application of principal component analysis to pharmacogenomic studies in Canada The Pharmacogenomics Journal9:362-372 2009
PubMed ID: 19652663
 
Kelley JL, Swanson WJ, Dietary change and adaptive evolution of enamelin in humans and among primates Genetics178:1595-603 2008
PubMed ID: 18245370
 
Hawkins A, Meyers A, Bleecker R, Pack I, Identification Of Coding Polymorphisms In Human Circadian Rhythm Genes Per1, Per2, Per3, Clock, Arntl, Cry1, Cry2 And Timeless In A Multi-ethnic Screening Panel DNA Seq10:1 2007
PubMed ID: 17852344
 
Melis, R., Lyon, E., and McMillin, G.A., Determination of CYP2D6, CYP2C9 and CYP2C19 genotypes with Tag-It mutation detection assays Expert Rev Mol Diagn6(6):811-20 2006
PubMed ID: 17140368
 
Fang Y, van Meurs JB, d'Alesio A, Jhamai M, Zhao H, Rivadeneira F, Hofman A, van Leeuwen JP, Jehan F, Pols HA, Uitterlinden AG, Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study. Am J Hum Genet77(5):807-23 2005
PubMed ID: 16252240
 
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
 
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
 
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
 
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
 
Matsuzaki H, Loi H, Dong S, Tsai YY, Fang J, Law J, Di X, Liu WM, Yang G, Liu G, Huang J, Kennedy GC, Ryder TB, Marcus GA, Walsh PS, Shriver MD, Puck JM, Jones KW, Mei R, Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array Genome research14:414-25 2004
PubMed ID: 14993208
 
Lakhman SS, Ghosh D, Blanco JG, Functional significance of a natural allelic variant of human carbonyl reductase 3 (CBR3) Drug metabolism and disposition: the biological fate of chemicals33:254-7 2004
PubMed ID: 15537833
 
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
 
Jurevic RJ, Chrisman P, Mancl L, Livingston R, Dale BA, Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations Genetic testing6:261-9 2003
PubMed ID: 12537649
 
Noonan JP, Li J, Nguyen L, Caoile C, Dickson M, Grimwood J, Schmutz J, Feldman MW, Myers RM, Extensive linkage disequilibrium, a common 167-kilobase deletion, and evidence of balancing selection in the human protocadherin alpha cluster American journal of human genetics72:621-35 2003
PubMed ID: 12577201
 
Fang Y, van Meurs JB, Bergink AP, Hofman A, van Duijn CM, van Leeuwen JP, Pols HA, Uitterlinden AG, Cdx-2 polymorphism in the promoter region of the human vitamin D receptor gene determines susceptibility to fracture in the elderly Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research18:1632-41 2003
PubMed ID: 12968672
 
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
 
Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J, Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet68(3):577-89 2001
PubMed ID: 11179006
 
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ, Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet68(1):26-37 2001
PubMed ID: 11090341
 
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
 
Lishanski A, Screening for single-nucleotide polymorphisms using branch migration inhibition in PCR-amplified DNA. Clin Chem46(9):1464-70 2000
PubMed ID: 10973891

Catalog IDSexAge at SamplingGeneMutation
NA17051Female8 YR  
     
NA17054Female5 YR  
     
NA17059Female34 YR  
     
NA17052Female2 YR  
     
NA17057Female CYP2D6, UGT1A16 TA Repeats (Bi), PRO34SER (Mono)
NA17058Female UGT1A16 TA Repeats (Mono), 7 TA Repeats (Mono)
NA17057Female CYP2D6, UGT1A16 TA Repeats (Bi), PRO34SER (Mono)
NA17058Female UGT1A16 TA Repeats (Mono), 7 TA Repeats (Mono)
NA17060Male63 YR  
     
NA17055Male50 YR  
     
NA17053Male15 YR  
     
NA17056Male