Document Detail


The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population.
MedLine Citation:
PMID:  11083946     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
D15S63 is one of the loci, on chromosome 15q11-q13, that exhibit parent-of-origin dependent methylation and that is commonly used in the diagnosis of Prader-Willi or Angelman syndromes (PWS/AS). A 28-kb deletion spanning the D15S63 locus was identified in five unrelated patients; in each of them the deletion was inherited from a normal parent. Three of the five families segregating the deletion were reported to be of Jewish Ashkenazi ancestry, and in the other two families the ancestral origin was unknown. To determine whether the 28-kb deletion is a benign variant, we screened for the deletion in 137 unselected Ashkenazi individuals and in 268 patients who were referred for molecular diagnosis of PWS/AS, of whom 89 were Ashkenazi and 47 were of mixed origin (Ashkenazi and non-Ashkenazi Jews). In the control group, three individuals were carriers of the deletion; among the patients, three were carriers, all of whom were Ashkenazi Jews. There was no significant difference between the control group and the Ashkenazi patients, indicating that the deletion is not a cause of PWS- and AS-like syndromes. The frequency of the 28-kb deletion in the Ashkenazi population was 1/75. Since methylation analysis at the D15S63 locus may lead to misdiagnosis, we suggest the use of SNRPN, either in a PCR-based assay or as a probe in Southern hybridization, as the method of choice in the diagnosis of PWS/AS.
Authors:
S Silverstein; I Lerer; K Buiting; D Abeliovich
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Publication Detail:
Type:  Journal Article     Date:  2000-11-17
Journal Detail:
Title:  American journal of human genetics     Volume:  68     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2001 Jan 
Date Detail:
Created Date:  2001-01-26     Completed Date:  2001-02-15     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  261-3     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, Hadassah Hebrew University Hospital and Hebrew University Medical School, Jerusalem 91120, Israel.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Angelman Syndrome / diagnosis,  genetics*
Arabs / genetics
Blotting, Southern
Chromosome Deletion*
Chromosomes, Human, Pair 15 / genetics*
DNA Methylation
Gene Frequency / genetics
Genetic Variation / genetics
Humans
Jews / genetics*
Polymerase Chain Reaction
Polymorphism, Genetic / genetics*
Prader-Willi Syndrome / diagnosis,  genetics*
Comments/Corrections

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