Albertine Donker

Chapter 4 186 Supplemental Table 7. Haplotype analysis in patients sharing a TMPRSS6 defect TMPRSS6 High Frequency Variants and Single Tandem Repeats DNA level Down Stream a 21xAC Down Stream a 17xGT c.120G>A c.113T>C c.99G>A rs number 5756516 5756515 11704654 HAP MAP allele frequencies b Caucasian population 0.425 0.483 0.248 Origin TMPRSS6 defect: c.1228T>C ID 8: c.1228T>C c.497delT NL 384 378 284 280 +/- +/- +/- +/- - - ID 13: c.1228T>C c.521T>C NL 380 380 284 284 - - - - - - TMPRSS6 defect: c.1904_1905dup ID 5: c.1904_1905dup c.1904_1905dup TR 378 378 282 282 + + + + - - ID 6: c.1904_1905dup c.1904_1905dup TR 378 378 282 282 +/- +/- +/- +/- - - ID 12 c.1904_1905dup c.1229G>C TR 378 378 282 284 - - - - - - TMPRSS6 defect: c.2105G>T ID 14: c. 2105G>T c.2383G>A NL na na na na - - - - +/- +/- ID 22: c.2105G>T Wt NL na na na na na na na na na na Haplotype analysis was performed by genotyping 10 intra-genic high frequency variants (HFV’s) in the TMPRSS6 gene with a Minor Allele Frequency in Caucasians > 0.005 and 3 Short Tandem Repeats surrounding TMPRSS6 in patients with identical defects, by Sanger sequencing. -/- = HFV homozygous absent; +/+ = HFV homozygous present; +/- HFV = heterozygous present, unknown on which allele the HFV is located Abbreviations: NL denotes Netherlands; TR, Turkey; na, not available