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Mills KA , Buetow KH , Xu Y , Ritty TM , Mathews KD , Bodrug SE , Wijmenga C , Balazs I , Murray JC
Genetic and Physical Mapping on Chromosome-4 Narrows the Localization of the Gene for Facioscapulohumeral Muscular- Dystrophy (Fshd)
American Journal of Human Genetics. 1992 Aug;51(2) :432-439
PMID: ISI:A1992JF77600026   
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Abstract
We have used a combination of classical RFLPs and PCR-based polymorphisms including CA repeats and single-strand conformation polymorphisms to generate a fine-structure genetic map of the distal long arm of chromosome 4q. This map is now genetically linked to the pre-existing anchor map of 4pter-4q31 and generates, for the first time, a complete linkage map of this chromosome. The map consists of 32 anchor loci placed with odds of greater than 1,000:1. The high-resolution map in the cytogenetic region surrounding 4q35 provides the order 4cen-D4S171-F11-D4S187-D4S163-D4S139-4qter. When we used somatic cell hybrids from a t(X;4)(p21;q35) translocation, these five markers fell into three groups consistent with the genetic map-D4S171 and F11 in 4pter-4q35, D4S163 and D4S139 in 4q35-4qter, and D4S187 as a junction fragment between these two regions. These markers are in tight linkage to the gene for facioscapulohumeral muscular dystrophy (FSHD) mapped to this region by several collaborating investigators and provide a framework for further detailed analysis of this region.
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English Article JF776 AMER J HUM GENET