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Genotyping of spinal muscular atrophy families with linked DNA probes
Author(s) -
Gennarelli Massimo,
Melchionda Salvatore,
Fattorini Cristina,
Novelli Giuseppe,
Dallapiccola Bruno
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03264.x
Subject(s) - spinal muscular atrophy , sma* , genotyping , haplotype , genetics , genetic linkage , allele , biology , carrier testing , genotype , prenatal diagnosis , gene , fetus , pregnancy , mathematics , combinatorics
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.