Identification of key recombinants in multiplex SMA families.
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.
van der Steege
G
G
Department of Medical Genetics, University of Groningen, The Netherlands.
Cobben
J M
JM
Brahe
C
C
Osinga
J
J
Zappata
S
S
Scheffer
H
H
Neri
G
G
van Ommen
G J
GJ
ten Kate
L P
LP
Buys
C H
CH
D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic
D004276:DNA, Satellite; D005819:Genetic Markers