A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7

Human Mutation

Volumn 21, Issue 6, 2003, Pages 645-648

  Moore, Mathew W ^a   Dietz, Lisa G ^b   Tirtorahardjo, Budi ^a   Cotter, Philip D ^a,b  

^a US Labs   (United States)

^b CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

Author keywords

Chromosome 7; Imprinting; MEST; Methylation; PEG1; RSS; Russell Silver syndrome; Uniparental disomy

Indexed keywords

GENOMIC DNA;

ALLELE; ARTICLE; CHROMOSOME 7; CHROMOSOME 7Q; CHROMOSOME REARRANGEMENT; CONTROLLED STUDY; DISOMY; DNA METHYLATION; GENE LOCUS; GENOME IMPRINTING; GROWTH RETARDATION; HUMAN; HUMAN CELL; MULTIPLEX METHYLATION POLYMERASE CHAIN REACTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY;

ALLELES; CELL LINE; CHROMOSOMES, HUMAN, PAIR 7; DNA METHYLATION; DNA PRIMERS; FEMALE; GENETIC SCREENING; GENOMIC IMPRINTING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); PROTEINS; UNIPARENTAL DISOMY;

EID: 0037534869     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10222     Document Type: Article

References (20)

1. Dupont JM, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, Jeanpierre M. 2002. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. Am J Med Genet 111:405-408.
2. Engel E, Antonarakis SE. 2002. Genomic imprinting and uniparental disomy in medicine. Clinical and molecular aspects. New York: Wiley-Liss, Inc. p. 133-142.
3. Frommer M, McDonald LE, Millar DS, Collis CM, Watt F, Grigg GW, Molloy PL, Paul CL. 1992. A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands. Proc Natl Acad Sci USA 89:1827-1831.
4. Hehr U, Dorr S, Hagemann M, Hansmann I, Preiss U, Bromme S. 2000. Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7. Am J Med Genet 91:237-239.
5. Herman JG, Baylin SB. 2002. Determination of DNA methylation patterns by methylation-specific PCR. Current protocols in human genetics online edition. Dracopli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DF, editors. New York: John Wiley & Sons, Inc. www3.interscience.wileycom/c_p/index.htm. [accessed March 20031
6. Hoglund P, Holmberg C, de la Chapelle A, Kere J. 1994. Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 55:747-752.
7. Kalousek DK, Langlois S, Robinson WP, Telenius A, Bernard L, Barrett IJ, Howard-Peebles PN, Wilson RD. 1996. Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 65:348-352.
8. Kobayashi S, Kohda T, Miyoshi N, Kuroiwa Y, Aisaka K, Tsutsumi O, Kaneko-Ishino T, Ishino F. 1997. Human PEG1/MEST, an imprinted gene on chromosome 7. Hum Mol Genet 6:781-786.
9. Kosaki K, Kosaki R, Robinson WP, Craigen WJ, Shaffer LG, Sato S, Matsuo N. 2000. Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay. J Med Genet 37:e19.
10. Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Mehes K, Hamel BC, Otten BJ, Hergersberg M, Werder E, Schoenle E, Schinzel A. 1995. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4:583-587.
11. Kotzot D. 1999. Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 82:265-274.
12. 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. 2000. Maternal uniparental disomy 7: review and further delineation of the phenotype. Eur J Pediatr 159:247-256.
13. Kotzot D. 2002. Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence? J Med Genet 39:775-778.
14. Lefebvre L, Viville S, Barton SC, Ishino F, Surani MA. 1997. Genomic structure and parent-of-origin-specific methylation of Peg1. Hum Mol Genet 6:1907-1915.
15. Miyoshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N. 1999. 47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD (7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13.q11 region. J Med Genet 36:326-329.
16. Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE. 2002. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Hum Genet 111:376-387.
17. Pan Y, McCaskill CD, Thompson KH, Hicks J, Casey B, Shaffer LG, Craigen WJ. 1998. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 62:1551-1555.
18. Robinson WP, Barrett IJ, Bernard L, Telenius A, Bemasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK. 1997. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 60:917-927.
19. Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. 1988. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226.
20. Voss R, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J. 1989. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet 45:373-380.