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Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader‐Willi syndrome

Restriction fragment length polymorphisms within proximal 15q and their use in molecular... Restriction fragment length polymorphisms (RFLPs) are described in detail for 6 DNA probes (D15S9–13, D15S18) that localize to the proximal long arm of human chromosome 15 (15q11–15q13: this report and Tantravahi et al., Am. J. Med. Genet. 33:78–87. Multiple RFLPs are detected by the probe that identifies locus D15S13, and these RFLPs are shown by genomic mapping to result from a nearby insertion or deletion of 1.8 kilobases (kb) of DNA. This set of RFLPs detected by proximal 15q probes can be used for studies on the Prader‐Willi syndrome (PWS) and on mentally retarded individuals with a supernumerary inv dup(15) chromosome. Five of the polymorphic loci (D15S9–13) map to the region implicated in the cause of the PWS (15qll.2–15q12). Each of 4 families tested with these probes, as well as an additional “PWS‐like” patient, was informative by RFLP analysis. The two PWS deletions studied, which occurred de novo, were inherited from the chromosome 15 provided by the father. By contrast, the 2 inv dup(15) chromosomes analyzed were of maternal origin. The use of RFLPs can also simplify the molecular determination of copy number in chromosomal aneuploidy, as exemplified by analysis of individuals with the PWS and a deletion, patients with an inv dup(15), and one patient with a more complex rearrangement involving chromosome 15. Our studies demonstrate the application of DNA probes for both molecular cytogenetic studies on this chromosome region and the development of diagnostic molecular markers to aid early clinical diagnosis of the PWS. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader‐Willi syndrome

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References (80)

Publisher
Wiley
Copyright
Copyright © 1989 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320330109
pmid
2568752
Publisher site
See Article on Publisher Site

Abstract

Restriction fragment length polymorphisms (RFLPs) are described in detail for 6 DNA probes (D15S9–13, D15S18) that localize to the proximal long arm of human chromosome 15 (15q11–15q13: this report and Tantravahi et al., Am. J. Med. Genet. 33:78–87. Multiple RFLPs are detected by the probe that identifies locus D15S13, and these RFLPs are shown by genomic mapping to result from a nearby insertion or deletion of 1.8 kilobases (kb) of DNA. This set of RFLPs detected by proximal 15q probes can be used for studies on the Prader‐Willi syndrome (PWS) and on mentally retarded individuals with a supernumerary inv dup(15) chromosome. Five of the polymorphic loci (D15S9–13) map to the region implicated in the cause of the PWS (15qll.2–15q12). Each of 4 families tested with these probes, as well as an additional “PWS‐like” patient, was informative by RFLP analysis. The two PWS deletions studied, which occurred de novo, were inherited from the chromosome 15 provided by the father. By contrast, the 2 inv dup(15) chromosomes analyzed were of maternal origin. The use of RFLPs can also simplify the molecular determination of copy number in chromosomal aneuploidy, as exemplified by analysis of individuals with the PWS and a deletion, patients with an inv dup(15), and one patient with a more complex rearrangement involving chromosome 15. Our studies demonstrate the application of DNA probes for both molecular cytogenetic studies on this chromosome region and the development of diagnostic molecular markers to aid early clinical diagnosis of the PWS.

Journal

American Journal of Medical Genetics Part AWiley

Published: May 1, 1989

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