Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

✍ Scribed by Francesca Capon; Chiarina Levato; Elena Bussaglia; Stefania Lo Cicero; Eduardo F. Tizzano; Monserrat Baiget; Vincenzo Silani; Antonio Pizzuti; Giuseppe Novelli; Bruno Dallapiccola

• Book ID: 101263800
• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 463 KB
• Volume: 7
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1996)7:3<198::aid-humu3>3.0.co;2-7

✦ Synopsis

Multicopy dinucleotide repeats have been characterized in the spinal muscular atrophy (SMA) region on chromosome 5q13, which reveal deletions in some Sh4A patients. 119 Italian and Spanish S M A families have been analysed using the C272 and C212 markers. Seventy percent of these families were informative. We found 9.4% de novo deletions in SMA I and 1.5% in SMA TI families. A single inherited deletion segregating in a Spanish pedigree was detected in three affected brothers. A S M A I1 patient showed deletion only of C272. T h e data presented in this study are relevant to the molecular diagnosis of S M A familes in Italy and Spain and provide additional insights toward the understanding of the molecular pathology of SMA.