HD27 HUMAN VARIATION PANEL

Description: HUMAN VARIATION PANEL - MIDDLE EASTERN (VERSION 2)

Aliquot Size: 10 µg each

Sex: Males: 5 Females: 5

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.
Bauchet, M., McEvoy, B., Pearson, L.N., Quillen, E.E., Sarkisian, T., Hovhannesyan, K., Deka, R., Bradley, D.G. and Shriver, M.D., Measuring European population stratification with microarray genotype data Am J Hum Genet80:948-956 2007
PubMed ID: 17436249
 
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
 
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
 
Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, Macdonald ME, Ozand PT, Gusella JF, Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3. Am J Hum Genet77(1):16-26 2005
PubMed ID: 15871139
 
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
 
Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF, Aparicio SA, Colledge WH, The GPR54 gene as a regulator of puberty The New England journal of medicine349:1614-27 2003
PubMed ID: 14573733
 
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
 
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 Sampling
NA17334Female7 YR
   
NA17338Female48 YR
   
NA17335Female40 YR
   
NA17332Female35 YR
   
NA17331Female18 YR
   
NA17336Male9 YR
   
NA17340Male8 YR
   
NA17339Male60 YR
   
NA17333Male40 YR
   
NA17337Male30 YR