Genotyping of spinal muscular atrophy families with linked DNA probes.
We report on linkage analysis and haplotype characterization in 40 Italian families with spinal muscular atrophy (SMA). The investigated loci included D5S6, D5S112, D5S39, and D5S76. No evidence of unlinked families was found. Thirty-two (80%) of the examined families were fully informative for prenatal diagnosis and carrier detection. The frequencies of individual alleles did not differ between SMA and normal chromosomes.
Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata, Roma, Italy.
M
M
Gennarelli
S
S
Melchionda
C
C
Fattorini
G
G
Novelli
B
B
Dallapiccola
D000328:Adult; D000483:Alleles; D002648:Child; D004247:DNA / Q000032:analysis / Q000302:isolation & purification; D015342:DNA Probes; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
D015342:DNA Probes; D004247:DNA