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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