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DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader–Willi syndromes and imprinting

✍ Scribed by Christopher C. Glenn; Glenn Deng; Ron C. Michaelis; Jack Tarleton; Mary C. Phelan; Linda Surh; Thomas P. Yang; Daniel J. Driscoll

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
150 KB
Volume
20
Category
Article
ISSN
0197-3851

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✦ Synopsis

The Angelman (AS) and Prader±Willi syndromes (PWS) are clinically distinct neurobehavioural syndromes resulting from loss of maternal (AS) or paternal contributions (PWS) of imprinted genes within the chromosomal 15q11-q13 region. The molecular diagnosis of both syndromes can be made by a variety of techniques, including DNA methylation, DNA polymorphism and molecular cytogenetic analyses. DNA methylation analysis at three major loci (ZNF127, PW71 and 5k SNRPN) has been successfully used for the postnatal diagnosis of AS and PWS. Methylation analysis, in contrast to other techniques, can reliably be used to diagnose all three major molecular classes (deletion, uniparental disomy and imprinting mutation) of PWS, and three of the four major classes of AS. In this study we demonstrate that methylation analysis can also be successfully used in prenatal diagnosis, by examining specimens obtained from amniocentesis and chorionic villus sampling. Correct prenatal diagnoses were obtained in 24 out of 24 samples using the 5k SNRPN locus; 4 out of 15 using the ZNF127 locus; and 10 out of 18 using the PW71 locus. Therefore, our data indicate that although the DNA methylation imprints of ZNF127 and 5k SNRPN arise in the germline and are present in brain, only 5k SNRPN maintains the imprint in tissues suitable for the prenatal diagnosis of AS and PWS.

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