A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine

ISSN 0564-3783

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A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine

Ekshiian AIu, Livshits LA, Bychkova AM, Afanas’eva NA, Bariliak IR

The results of DNA analysis of deletion in exons 7 and 8 of SMN gene, and exon 5 of NAIP gene in 24 SMA-families from Ukraine are presented. Deletions of SMN exons 7 and 8, or 7 were found in 46 (97.9%) of 47 SMA-chromosomes. A homozygous deletion of NAIP exon 5 was demonstrated in 4 (19%) of 21 SMA-families. The authors have demonstrated that in 2 SMA patients with homozygous deletion SMN exon 7 only, the remaining SMN exon 8 was a part of a chimeric CBCD41/SMN gene.

Tsitologiya i Genetika 1997, vol. 31, no. 6, pp. 75-81

Ekshiian AIu, Livshits LA, Bychkova AM, Afanas’eva NA, Bariliak IR A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine, Tsitol Genet., 1997, vol. 31, no. 6, pp. 75-81.

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Modified 22.06.21