Literature DB >> 1303209

D20S19, linked to low voltage EEG, benign neonatal convulsions, and Fanconi anaemia, maps to a region of enhanced recombination and is localized between CpG islands.

O Steinlein1, C Fischer, R Keil, R Smigrodzki, F Vogel.   

Abstract

Recent linkage studies located genes responsible for the low voltage EEG, benign neonatal convulsions and for the Fanconi anaemia to the vicinity of the VNTR marker CMM6 (D20S19). Physical mapping experiments using pulsefield electrophoresis in the distal part of chromosome 20q were chosen as a first step towards cloning of these genes. The observed pattern of shared fragments lead to the locus order 'tel-IP20K09-RMR6-CMM6-MS214-cen', which differs from previously reported genetic linkage maps. The physical intervals between these probes are markedly shorter compared with the genetic distances. Clusters of rare cutter sites around CMM6 point to at least four closely related CpG islands.

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Year:  1992        PMID: 1303209     DOI: 10.1093/hmg/1.5.325

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  3 in total

1.  Search for alpha4 and alpha7 nicotinic acetylcholine receptor markers in a pedigree of benign familial infantile convulsions (BFIC).

Authors:  M B Rauschemberger; C Vecchi; F J Barrantes
Journal:  Neurochem Res       Date:  2002-11       Impact factor: 3.996

2.  Genetic linkage analysis of 14 candidate gene loci in a family with autosomal dominant osteoarthritis without dysplasia.

Authors:  I Meulenbelt; C Bijkerk; F C Breedveld; P E Slagboom
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

3.  Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q.

Authors:  O Steinlein; V Schuster; C Fischer; M Häussler
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

  3 in total

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