Identification of Key Recombinants in Multiplex SMA Families
| Autor: | C. Brahe, Stefania Zappata, Lp Tenkate, Giovanni Neri, Chcm Buys, J. M. Cobben, Jan Osinga, Hans Scheffer, G Vandersteege, Gjb Vanommen |
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| Jazyk: | angličtina |
| Rok vydání: | 1994 |
| Předmět: |
Genetic Markers
Male CHROMOSOME-5 Locus (genetics) Genes Recessive MICROSATELLITE POLYMORPHISMS Biology DNA Satellite REGION Muscular Atrophy Spinal Gene mapping DNA POLYMORPHISMS Genetics medicine LOCUS LINKAGE Humans Gene Chromosomes Artificial Yeast Proximal spinal muscular atrophy COMMITTEE MAPPED GENES Recombination Genetic CATALOGS SPINAL MUSCULAR-ATROPHY Chromosome Mapping Spinal muscular atrophy SMA medicine.disease Major gene Pedigree Haplotypes Genetic marker Female Polymorphism Restriction Fragment Length |
| Zdroj: | GENOMICS, 22(1), 219-222. ACADEMIC PRESS INC ELSEVIER SCIENCE |
| ISSN: | 0888-7543 |
| Popis: | Recent reports have provided evidence that a major gene for autosomal recessive proximal spinal muscular atrophy (SMA) resides in a small genetic interval in bands q12-q13 of chromosome 5, a 4-cM region proximally flanked by D5S125 (EF(TG/AG)n) and distally by MAP1B/D5S112 or a 0.7-cM interval (range 0.1-2.1 cM) flanked by D5S435 proximally and MAP1B/D5S112 distally. We present the identification of key recombinants between SMA and the closest flanking DNA-markers in an analysis of Dutch and Italian SMA families. These crossovers may serve as reference points for new markers in this region and may thus be instrumental in a further refined mapping of the SMA gene. Two markers, D5S351 (I105) and D5S357 (Mfd151), could be mapped distally to SMA in the interval SMA-D5S112. (C) 1994 Academic Press, Inc. |
| Databáze: | OpenAIRE |
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