[A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine].
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.
Ekshiian
A Iu
AIu
Livshits
L A
LA
Bychkova
A M
AM
Afanas'eva
N A
NA
Bariliak
I R
IR
D000328:Adult; D002648:Child; D002678:Chimera / Q000235:genetics; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008967:Molecular Biology; D016133:Polymerase Chain Reaction / Q000379:methods; D012307:Risk Factors; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics*; D014455:Ukraine
D017931:DNA Primers; D004247:DNA
Molekuliarno-geneticheskiĭ analiz spinal'noĭ myshechnoĭ atrofii (SMA) v sem'iakh vysokogo riska iz raznykh regionov Ukrainy.