A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms

Human Mutation

Volumn 17, Issue 5, 2001, Pages 423-430

  Baumer, Alessandra ^a   Wiedemann, Ute ^a   Hergersberg, Martin ^a   Schinzel, Albert ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Angelman syndrome; AS; Beckwith Wiedemann syndrome; BWS; DHPLC; H19; IGF2; Imprinted genes; KCNQ1OT1; LIT1; Methylation, allele specific; Methylation specific PCR; Mosaicism; Prader Willi syndrome; PWS; SNRPN; UBE3A

Indexed keywords

ALLELISM; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CYTOGENETICS; DNA METHYLATION; GENE AMPLIFICATION; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MOLECULAR DYNAMICS; MOSAICISM; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SOUTHERN BLOTTING; UNIPARENTAL DISOMY;

ADULT; ALLELES; ANGELMAN SYNDROME; AUTOANTIGENS; BECKWITH-WIEDEMANN SYNDROME; BLOTTING, SOUTHERN; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA METHYLATION; FEMALE; GENOMIC IMPRINTING; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; NUCLEIC ACID DENATURATION; POLYMERASE CHAIN REACTION; PRADER-WILLI SYNDROME; PROTEIN-SERINE-THREONINE KINASES; REPRODUCIBILITY OF RESULTS; RIBONUCLEOPROTEINS, SMALL NUCLEAR; SENSITIVITY AND SPECIFICITY; SUBSTRATE SPECIFICITY; TEMPERATURE; TIME FACTORS;

EID: 0035041886     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1118     Document Type: Article

References (13)

1. Parental imprinting of the mouse insulin-like growth factor II gene
2. Uniparental paternal disomy in a genetic cancer-predisposing syndrome
3. Methylation-specific PCR simplifies imprinting analysis
4. Role for DNA methylation in genomic imprinting
5. Origin and clinical significance of inv dup(15)
6. LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids
7. Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes
8. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
9. Clinical and molecular analysis of five inv dup(15) patients
10. Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome
11. A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
12. Imprinted segments in the human genome: Different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method
13. Monoallelic expression of the human H19 gene