Albertine Donker

Chapter 4 184 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 TMRPSS6 defect: c.497delT ID 2: c.497delT c.del exon 1-3 NL 378 384 280 280 - - - - - - ID 3: c.497delT c.497delT NL 378 378 280 280 - - - - - - ID 4: c.497delT c.497delT NL 378 378 280 280 - - - - - - ID 7: c.497delT c.1832G>A NL 378 384 280 282 +/- +/- +/- +/- - - ID 8: c.497delT c.1228T>C NL 378 384 280 284 +/- +/- +/- +/- - - ID 9: c.497delT c.1324G>A NL 378 380 280 280 - - - - - - ID 10: c.497delT c.1324G>A NL 380 378 280 280 + + + + - - ID 11: c.497delT c.2383G>A NL 378 378 280 280 na na na na na na ID 16: c.497delT Wt NL 378 384 280 284 + + + + - - ID 17 c.497delT Wt NL 378 378 280 282 na na na na na na