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Table 1 Analysis of short tandem repeat (STR) marker inheritance and their allelic ratio in pancreas DNA from two different loci (Pancreas 1A and 2A) from the proband

From: Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism

STR Cytoband Maternal Paternal Pancreas 1A Pancreas 2A Pancreas 1A mat:pat allelic ratio Pancreas 2A mat:pat allelic ratio Interpretation
D11S1363 11p15.5 a,b a a,b a,b 0.1:0.9 0.24:0.76 mos paternal UPD
D11S1984 11p15.5 a a,b a,b a,b 0.11:0.89 0.25:0.75 mos paternal UPD
CHR11-TH 11p15.5 a,b c,d a,c a,c 0.17:0.83 0.32:0.68 mos paternal UPD
D11S1923 11p15.4 a,b c,d b,c b,c 0.12:0.88 0.26:0.74 mos paternal UPD
D11S1338 11p15.4 a a,b a a nil nil uninformative
D11S904 11p14.2 a,b c,d a,d a,d 1:1 1:1 biparental
D11S2632 11q12 a,b c b,c b,c 1:1 1:1 biparental
D11S956 11q12.1 a,b c,d b,d b,d 1:1 1:1 biparental
D11S898 11q22.1 a a,b a,b a,b 1:1 1:1 uninformative
D11S1299 11q23.3 a,b a,c b,c b,c 1:1 1:1 biparental
D11S488 11q24.1 a,b c,d a,d a,d 1:1 1:1 biparental
  1. mat:pat allelic ratio: maternal to paternal allelic ratio
  2. nil: unable to provide allelic ratio as monoallelic pattern in observed in Pancreas 1A and 2A DNA
  3. biparental: Pancreas 1A and 2A DNA show inheritance of one allele from each parent
  4. mos paternal UPD: the inheritance of alleles in the pancreas 1A and 2A DNA is not unambiguously biparental (due to presence of low level of maternal allele), but is consistent with mosaic UPD of paternal origin
  5. uninformative: unable to delineate inheritance by the STR marker pattern