Special issue: Responsible writing in science

In tro duc tion: Gil be rt’s syndro me is the mo st com mon he re di ta ry di sor der of bi li ru bin me ta bo li sm. The cau sa ti ve mu ta tion in Cau ca sia ns is al mo st exclu si ve ly a (TA) di nuc leo ti de in ser tion in the UG T1A1 pro mo ter. Aff ec ted in di vi dua ls are ho mo zygous for the va ria nt pro mo ter and ha ve 7 TA re peats in stead of 6. Pro mo te rs wi th 5 and 8 TA re pea ts al so exi st but are extre me ly ra re in Cau ca sia ns. The aim of our stu dy was to de ve lop de na tu ri ng hi gh-per for man ce liquid chro ma tog rap hy (DHPLC) as say for ge no typi ng UGT1A1(TA)n po lymor phi sm and to com pa re it wi th a pre vious ly des cri bed sin gle-stra nd con for ma tion po lymor phi sm (SSCP) as say. Ma te ria ls and met ho ds: Fif ty DNA sam ples wi th com mon ge no types ((TA)6/6, (TA)6/7, (TA)7/7) as we ll as 7 sam ples wi th one of the fol lowi ng ra re ge no types (TA)5/6, (TA)5/7, (TA)6/8 or (TA)7/8 we re am pli fi ed by po lyme ra se chain reac tion (PCR) and ge no typed by DHPLC usi ng si zi ng mo de. All samples we re pre vious ly ge no typed by SSCP as say whi ch was va li da ted by sequen ci ng ana lysis. Re sul ts: All sam ples wi th eit her com mon or ra re ge no types showed com ple te ly con cor da nt re sul ts be tween DHPLC and SSCP as says. Our re sul ts show that si zi ng DHPLC as say is mo re effi cie nt com pa red to clas si cal SSCP as say due to shor ter time of ge no typi ng ana lysis, abi li ty of ge no typi ng in crea sed num ber of sam ples per day, hig her ro bus tne ss, rep ro du ci bi li ty and co st-eff ec ti ve ne ss wi th no lo ss of ac cu ra cy in de tec tion of all UG T1A1(TA)n ge no types. Con clu sio ns: We de ve lo ped a new DHPLC as say whi ch is sui tab le for ac cu ra te, au to ma ted, highthroug hput, ro bu st ge no typi ng of all UG T1A1(TA)n po lymor phi sm va rian ts, com pa red to a la bour in ten si ve and ti me-con su mi ng SSCP as say. Key wor ds: hyper bi li ru bi ne mia; mic ro sa tel li te; phar ma co ge ne ti cs; SSCP; DHPLC; UG T1A1