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Fig. 2 | BMC Neurology

Fig. 2

From: Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR

Fig. 2

SMN1 gene long-range PCR and optimized-MLPA P021 results for both probands and their mothers. a The full length of SMN1-specific amplification includes exons 1–8 c.1155 examined by electrophoresis. b The MLPA result of proband F1-II.1 indicated that none of the two probes of SMN1 exon 1 (184 bp and 382 bp) was detected by PCR-CE, marked by arrows. Other probes from exons 2–7 were labeled on top. c The MLPA result of F1-I.1, mother of the proband, the two probes of SMN1 exon 1 were marked by arrows. d Family 1’s copy numbers of each exon in the SMN1 gene. e The MLPA result of F2-II.1, none of the SMN1 exon 1 probe was detected, marked by arrows. f The MLPA result of the mother, F2-I.1, two of SMN1 exon 1 signals were marked by arrows

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BMC Neurology

ISSN: 1471-2377

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