ArticleHuman genetics1990
Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
Article in Human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 60 citations in OpenAlex.
- Polymorphism analysis of the VNTR locus D17S5 in central Spain.International journal of legal medicine · 1996Article
- Suitability of the YNZ22 (D17S5) VNTR polymorphism for legal medicine investigations in the population of Catalonia (Spain).International journal of legal medicine · 1995Article
- Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene.Human genetics · 1994Article
- PCR typing of the locus D17S30 (YNZ22 VNTR) in an Italian population sample.International journal of legal medicine · 1994Article
- Genetic factors in lissencephaly syndromes: a review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 1993Review
- Parental origin of triploidy in human fetuses: evidence for genomic imprinting.Human genetics · 1993Article
- Uniparental disomy for chromosome 16 in humans.American journal of human genetics · 1993Article
- Characteristics of polymorphism at a VNTR locus 3' to the apolipoprotein B gene in five human populations.American journal of human genetics · 1992Article
- Repair of damaged DNA by extracts from a xeroderma pigmentosum complementation group A revertant and expression of a protein absent in its parental cell line.Nucleic acids research · 1992Article
- Population genetics and forensic efficiency data of 4 AMPFLP's.International journal of legal medicine · 1992Article
- Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.American journal of human genetics · 1991Article
- Variable number of tandem repeat (VNTR) polymorphism at locus D17S5 (YNZ22) in four ethnically defined human populations.Human geneticsArticle
- Characterization of a continuous human glioma cell line DBTRG-05MG: growth kinetics, karyotype, receptor expression, and tumor suppressor gene analyses.In vitro cellular & developmental biology : journal of the Tissue Culture AssociationArticle
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
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.
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