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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

Figure 1

Failed amplification of paternal allele of the SMPD1 gene in patient number 8. The panel A showed patient 8 carried a heterozygous mutation, c.1382A>C, derived from her mother, as observed on a DNA level. However, at the RNA level the expression was in an apparently homozygous state. The panel B showed an intron variation IVS5+5G>C at the DNA level derived from this patient’s father. At the RNA level exon 5 and 6 remained unbroken, indicating lack of amplification of paternal allele.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172