Correspondence
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
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* Corresponding author: Simon C Ramsden simon.ramsden@cmft.nhs.uk
1 National Genetics Reference Laboratory (Manchester), Saint Mary's Hospital, Hathersage Road, Manchester, M13 OJH, UK
2 Department of Clinical Genetics, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK
3 Department of Medical Genetics, Yorkhill NHS Trust, Yorkhill Hospital, Glasgow, G3 8SJ, UK
4 Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany
BMC Medical Genetics 2010, 11:70 doi:10.1186/1471-2350-11-70
Published: 11 May 2010Additional files
Additional file 1:
Sequence of the SNRPN exon 1/promoter region before (upper black line) and after (lower red line) bisulphite treatment (chr.15; 22750953 - 22751602; Human Genome Browser; htg18). Single nucleotide polymorphisms (SNPs) in primer binding sites are boxed. In the bisulphite converted DNA sequence the X represents cytosines on methylated alleles. Primer binding sites for different PCR assays are shown as arrows. The binding site of two MLPA probes in the SNRPN exon 1/intron 1 region is given in blue. MF, forward primer for the maternal methylated allele; PF, forward primer for the paternal unmethylated allele; MR, reverse primer for the maternal methylated allele; PR, reverse primer for the unmethylated paternal allele.
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