caa a22 4500 467985863 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194237 doi (NATIONALLICENCE)springer-10.1007/BF00194237 Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction [Elektronische Daten] [Jacqueline Batanian, Susan Ledbetter, Roger Wolff, Yusuke Nakamura, Ray White, William Dobyns, David Ledbetter] Summary: Probe YNZ22 (D17S5) is a highly polymorphic, variable number tandem repeat (VNTR) marker previously shown to be deleted in all patients with the Miller-Dieker syndrome (MDS) but not in patients with isolated lissencephaly sequence (ILS). Primers were constructed to the unique sequence flanking the polymorphic, repetitive region of YNZ22 for amplification by the polymerase chain reaction (PCR). Analysis of 118 normal individuals revealed 12 alleles (differing in copy number of a 70-bp repeat unit) ranging in size from 168 to 938 bp. A retrospective study of eight MDS and six ILS patients was consistent with Southern blot analysis in all cases except one. In the latter, a very large allele (12 copies of the repeat unit) in a patient and her mother failed to amplify on initial attempts, but was successfully amplified by reducing the concentration of genomic DNA used in the reaction. Prospective studies on two MDS and five ILS patients were successfully performed and confirmed in all cases by Southern blot analysis. From the total sample, restriction fragment length polymorphism (RFLP) analysis was fully informative in four of ten MDS patients and showed a deletion in all four cases. Nine of eleven ILS patients were heterozygous and therefore not deleted for YNZ22. Development of primers for additional polymorphic markers in the Miller-Dieker region will lead to a rapid PCR-based diagnostic approach for all MDS and ILS patients. PCR typing of YNZ22 will also facilitate use of this marker in other applications, including genetic linkage, paternity and forensic studies, and analysis of loss of heterozygosity in tumors. Springer-Verlag, 1990 Batanian Jacqueline Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut Ledbetter Susan Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut Wolff Roger Department of Human Genetics, University of Utah School of Medicine, 84132, Salt Lake City, UT, USA aut Nakamura Yusuke Department of Human Genetics, University of Utah School of Medicine, 84132, Salt Lake City, UT, USA aut White Ray Department of Human Genetics, University of Utah School of Medicine, 84132, Salt Lake City, UT, USA aut Dobyns William Department of Neurology and Department of Medical Genetics, Indiana University School of Medicine, 46202, Indianapolis, IN, USA aut Ledbetter David Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut Human Genetics Springer-Verlag 85/5(1990-10-01), 555-559 0340-6717 85:5<555 1990 85 439 https://doi.org/10.1007/BF00194237 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194237 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Batanian Jacqueline Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Ledbetter Susan Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Wolff Roger Department of Human Genetics, University of Utah School of Medicine, 84132, Salt Lake City, UT, USA aut NATIONALLICENCE 700 1- Nakamura Yusuke Department of Human Genetics, University of Utah School of Medicine, 84132, Salt Lake City, UT, USA aut NATIONALLICENCE 700 1- White Ray Department of Human Genetics, University of Utah School of Medicine, 84132, Salt Lake City, UT, USA aut NATIONALLICENCE 700 1- Dobyns William Department of Neurology and Department of Medical Genetics, Indiana University School of Medicine, 46202, Indianapolis, IN, USA aut NATIONALLICENCE 700 1- Ledbetter David Institute for Molecular Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/5(1990-10-01), 555-559 0340-6717 85:5<555 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer