Molecular characterization of Prader-Willi syndrome by real-time PCR

Genetic Testing

Volumn 12, Issue 2, 2008, Pages 319-324

  Munce, Teresa ^a,b   Simpson, Robert ^b   Bowling, Francis ^c  

^a MATER HOSPITAL   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c MATER CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DYE; GENOMIC DNA; INTERCALATING AGENT;

ADOLESCENT; ADULT; ARTICLE; CHEEK MUCOSA; CHILD; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA ISOLATION; EPITHELIUM CELL; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; LEUKOCYTE; NUCLEOTIDE SEQUENCE; PRADER WILLI SYNDROME; REAL TIME POLYMERASE CHAIN REACTION;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; DNA; EPITHELIAL CELLS; GENE DOSAGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEUKOCYTES, MONONUCLEAR; MOUTH MUCOSA; ORGANIC CHEMICALS; POLYMERASE CHAIN REACTION; PRADER-WILLI SYNDROME;

EID: 45549096206     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0105     Document Type: Article

References (23)

1. Amos-Landgraf J, Ji Y, Gottlieb W, Depinet T, Wandstrat A, Cassidy S, Driscoll D, Rogan P, Schwartz S, Nicholls R (1999) Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 65:370-386.
2. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400.
3. Burd L, Vesely B, Martsolf J, Kerbeshian J (1990) Prevalence study of Prader-Willi syndrome in North Dakota. Am J Med Genet 37:97-99.
4. Chai J, Locke D, Greally J, Knoll J, Ohta T, Dunai J, Yavor A, Eichler E, Nicholls R (2003) Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet 73:898-925.
5. Chen C, Visootsak J, Dills S, Graham JM (2007) Prader-Willi Syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila) 46:580-591.
6. Christian SL, Fantes JA, Mewborn SK, Haung B, Ledbetter DH (1999) Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet 8:1025-1037.
7. Christian S, Robinson W, Huang B, Mutirangura A, Line M, Nakao M, Surti U, Chakravarti A, Ledbetter D (1995) Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 57:40-48.
8. Dittrich B, Robinson W, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaeshbach G, Horsthemke B (1992) Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-q13. Hum Genet 90:313-315.
9. Ehara H, Ohno K, Takeshita K (1995) Frequency of the Prader-Willi syndrome in the San-in district Japan. Brain Dev 17:324-326.
10. Goldstone A (2004) Prader-Willi syndrome: advances in genetics pathophysiology and treatment. Trends Endocrinol Metab 15:12-20.
11. Holm V, Cassidy S, Butler M, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F (1993) Prader-Willi syndrome. Consensus diagnostic criteria. Pediatrics 91:398-402.
12. Joncourt F, Neuhaus B, Jostarndt-Foegen K, Kleinle S, Steiner B, Gallati S (2004) Rapid identification of female carriers of DMD/ BMD by quantitative real-time PCR. Hum Mutat 23:385-391.
13. Knoll J, Nicholls R, Magenis RE, Graham JM, Jr., Lalande M, Latt S (1990) Angelman syndrome: three molecular classes identified with chromosome 15q11-q13 specific DNA markers. Am J Hum Genet 47:149-154.
14. Kosaki K, McGinniss MJ, Veraksa AN, McGinnis WJ, Jones KL (1997) Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation specific PCR method. Am J Med Genet 73:308-313.
15. Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH (1996) Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet 66:77-80.
16. Lee MJ, Nishio H, Nagai T, Okamoto N, Yuki T, Sumino K (1998) Molecular genetic analysis of the Prader-Willi syndrome by using fluorescent multiplex PCR of the dinucleotide repeats on chromosome 15q11-q13. Clin Chim Acta 271:89-96.
17. Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JA, Jeffreys AJ, Ladda RL, Nicholls RD (1992) The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. New Engl J Med 326:1599-1607.
18. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
19. Raca G, Buiting K, Das S (2004) Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. Genet Test 8:387-394.
20. Robinson WP, Bottani A, Xie YG, Balakrishman J, Binkert F, Machler M, Prader A, Schinzel A (1991) Molecular, cytogenetic and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49:1219-1234.
21. Smith A, Egan J, Ridley G, Haan E, Montgomery P, Williams K, Elliot E (2003) Birth prevalence of Prader-Willi syndrome in Australia. Arch Dis Child 88:263-264.
22. Wang N, Liu N, Parokonny A, Schanen C (2004) High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. Am J Hum Genet 75:267-281.
23. Whittington JE, Holland T (2004) Prader-Willi Syndrome Development and Manifestations. Cambridge University Press, Cambridge, UK.