HD09 HUMAN VARIATION PANEL

Description: HUMAN VARIATION PANEL - PUERTO RICAN

Aliquot Size: 10 µg each

Sex: Males: 3 Females: 7

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.
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
 
Hwa V, Little B, Adiyaman P, Kofoed EM, Pratt KL, Ocal G, Berberoglu M, Rosenfeld RG, Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b The Journal of clinical endocrinology and metabolism90:4260-6 2005
PubMed ID: 15827093
 
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
 
Sawyer SL, Wu LI, Akey JM, Emerman M, Malik HS, High-frequency persistence of an impaired allele of the retroviral defense gene TRIM5alpha in humans Current biology : CB16:95-100 2005
PubMed ID: 16401428
 
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
 
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
NA17080Female57 YR  
     
NA17079Female35 YR  
     
NA17074Female32 YR  
     
NA17072Female25 YR  
     
NA17076Female19 YR  
     
NA17071Female18 YR  
     
NA17073Female14 YR  
     
NA17075Male5 YR  
     
NA17078Male43 YRHLA-BHLA-B*5703 (Mono)
    HLA-B*5703 (Mono)
NA17077Male20 YR