METHYLATION PCR ANALYSIS OF PRADER-WILLI-SYNDROME, ANGELMAN-SYNDROME,AND CONTROL SUBJECTS

We report on a relatively large survey of Prader-Willi syndrome, Angel man syndrome, and control subjects with the newly described methylatio n polymerase chain reaction (PCR) method to determine its usefulness f or molecular diagnosis. Sixty-one Prader-Willi syndrome (PWS) individu als (26 men and 35 women), 9 Angelman syndrome (AS) patients (5 men an d 4 women), and 58 other individuals were studied with methylation PCR following sodium bisulfite treatment of genomic DNA, In addition, mul tiple tissues, including fetal tissue, were studied from several indiv iduals to determine the effects of various tissues on methylation PCR results, The expected methylation PCR result was observed in each case . This PCR-based assay evaluates the methylation status of the CPG isl and of the SNRPN gene and allows for rapid molecular diagnosis of PWS or AS with less labor than Southern hybridization for methylation anal ysis, The PCR results were identical to those achieved by Southern hyb ridization in those individuals studied. (C) 1998 Wiley-Liss, Inc.