[DNA-based diagnosis of Angelman syndrome and Prader-Willi syndrome]. 1993

S Saitoh
Department of Human Genetics, Nagasaki University School of Medicine.

A molecular-genetic study was performed in 61 patients with Angelman syndrome (AS) and 14 patients with Prader-Willi syndrome (PWS). Southern blot analyses and/or PCR-mediated dinucleotide repeat polymorphism (DNRP) analyses revealed that 67% of AS patients have DNA deletions ranging from D15S9 to D15S12 loci. An exception was 3 sib cases whose deletion involved only 2 loci, D15S10 and GABRB3. The parental origin of the deletions in AS patients were exclusively maternal. No uniparental disomy (UPD) was found in our AS patient series, suggesting that UPD in AS is infrequent than that in PWS. Molecular deletions were observed in 6 of the 14 PWS patients. In order to develop a simple, reliable DNA-based diagnostic method, I adopted PCR-mediated DNRPs as genetic markers for the detection of deletions and/or parental origin of chromosomes 15 in AS and/or PWS patients. This method gave useful diagnostic information in 33 (89%) of 37 AS patients and 12 (86%) of 14 PWS patients, indicating no big difference from the information obtained with Southern blot analysis. Furthermore, since this DNRP method dose not require radioisotopes, it may be a first-choice, alternative way when diagnosing AS or PWS patients.

UI MeSH Term Description Entries
D008297 Male Males
D011218 Prader-Willi Syndrome An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) Labhart-Willi Syndrome,Royer Syndrome,Labhart-Willi-Prader-Fanconi Syndrome,Prader Labhart Willi Syndrome,Prader-Labhart-Willi Syndrome,Royer's Syndrome,Willi-Prader Syndrome,Labhart Willi Prader Fanconi Syndrome,Labhart Willi Syndrome,Prader Willi Syndrome,Royers Syndrome,Syndrome, Labhart-Willi,Syndrome, Labhart-Willi-Prader-Fanconi,Syndrome, Prader-Labhart-Willi,Syndrome, Prader-Willi,Syndrome, Royer,Syndrome, Royer's,Syndrome, Willi-Prader,Willi Prader Syndrome
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002884 Chromosomes, Human, Pair 15 A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. Chromosome 15
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D015139 Blotting, Southern A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES. Southern Blotting,Blot, Southern,Southern Blot

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