Global analysis of uniparental disomy using high density genotyping arrays

Journal of Medical Genetics

Volumn 42, Issue 11, 2005, Pages 847-851

  Bruce, S ^a   Leinonen, R ^a   Lindgren, C M ^a,b   Kivinen, K ^a   Dahlman Wright, K ^a   Lipsanen Nyman, M ^c   Hannula Jouppi, K ^d   Kere, Ju ^a,b,d  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ARTICLE; CHROMOSOME; CHROMOSOME 7; GENE MAPPING; GENOMICS; GENOTYPE; HIGH THROUGHPUT SCREENING; HUMAN; MATHEMATICAL COMPUTING; PRIORITY JOURNAL; RELIABILITY; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

CHROMOSOME MAPPING; FEMALE; GENOME; GENOMIC IMPRINTING; GENOTYPE; HUMANS; MALE; MODELS, GENETIC; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; UNIPARENTAL DISOMY;

EID: 27744495445     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.032367     Document Type: Article

References (21)

1. Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980;6:137-43.
2. Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1988;42:217-26.
3. Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 2000;22:452-9.
4. Tilghman SM. The sins of the fathers and mothers: genomic imprinting in mammalian development. Cell 1999;96:185-93.
5. Cassidy SB, Dykens E, Williams CA. Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet 2000;97:136-46.
6. Maher ER, Reik W. Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest 2000;105:247-52.
7. Kotzot D. Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 1999;82:265-74.
8. Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Maternal uniparental disomy 7 - review and further delineation of the phenotype. Eur J Pediatr 2000;159:247-56.
9. Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet 2001;68:247-53.
10. Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Hum Genet 2002;111:376-87.
11. Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling EL, Stanier P, Moore GE. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. J Med Genet 1999;36:457-60.
12. Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB. American College of Medical Genetics statement of diagnostic testing for uniparental disomy. Genet Med 2001;3:206-11.
13. Kosaki K, Kosaki R, Robinson WP, Craigen WJ, Shaffer LG, Sato S, Matsuo N. Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay. J Med Genet 2000;37:e19.
14. Moore MW, Dietz LG, Tirtorahardjo B, Cotter PD. A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7. Hum Mutat 2003;21:645-8.
15. 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 Res 2004;14:414-25.
16. Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M. Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet 2001;38:273-8.
17. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998;63:259-66.
18. R Development Core Team. R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing, 2004.
19. Zhao H, Li J, Robinson WP. Multipoint genetic mapping with uniparental disomy data. Am J Hum Genet 2000;67:851-61.
20. Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brondum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ. Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet 1998;7:1011-19.
21. Rauch A, Ruschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW, Reis A, Nürnberg P. Molecular karyotyping using an SNP array for genomewide genotyping. J Med Genet 2004;41:916-22.