Table 3.
Genotype and phenotype laboratory methods for high-quality phenotype–genotype studies (n = 30).
| Study | Year | Amplification/genotype method | Population | Polymorphisms tested | Phenotype method | Ref. |
|---|---|---|---|---|---|---|
| Ben Salah | 2013 | PCR; AS-PCR; RFLP | Other | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c | HPLC | [13] |
| Fakhoury | 2007 | PCR; AS-PCR | European | TPMT*2, TPMT*3a, TPMT*3c | HPLC | [25] |
| Fangbin | 2012 | PCR; RFLP | Chinese | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c | Not specified | [26] |
| Ford | 2006 | ARMS; AS-PCR; PCR | Not specified | TPMT*2, TPMT*3 | HPLC | [27] |
| Ford | 2009 | ARMS; AS-PCR; PCR | Not specified | TPMT*2, TPMT*3a, TPMT*3c | HPLC | [28] |
| Ganiere-Monteil | 2004 | PCR; AS-PCR | Caucasian | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c | HPLC | [58] |
| Gazouli | 2012 | PCR; RFLP | Not specified | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c | RC | [29] |
| Hindorf | 2012 | Pyrosequencing | Not specified | TPMT*2, TPMT*3a, TPMT*3c; those with phenotype under 9.0 were further investigated on exons 3–10 | RC | [30] |
| Jorquera | 2012 | PCR; RFLP | Other | TPMT*1, TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c | HPLC | [38] |
| Langley | 2002 | PCR; RFLP | Not specified | TPMT*3a, TPMT*3b, TPMT*3c | RC | [59] |
| Larussa | 2012 | PCR; RFLP | Caucasian | TPMT*2, TPMT*3b, TPMT*3c | Competitive micro-well immunoassay | [31] |
| Lennard | 2013 | PCR; RFLP | Other | TPMT*3a, TPMT*3b, TPMT*3c | HPLC | [32] |
| Liang | 2013 | PCR; TaqMan | Not specified | TPMT*2, TPMT*3a, TPMT*3c | Not specified | [14] |
| Loennechen | 2001 | PCR; AS-PCR; RFLP | Caucasian | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c, TPMT*6 | RC | [23] |
| Ma | 2006 | PCR; RFLP | Chinese | TPMT*2, TPMT*3a, TPMT*3c | HPLC | [39] |
| Marinaki | 2003 | PCR; RFLP | Caucasian | TPMT*2, TPMT*3a, TPMT*3c | RC | [60] |
| Milek | 2006 | PCR; RFLP, TaqMan | Other | TPMT*2, TPMT*3b, TPMT*3c | HPLC | [33] |
| Oselin | 2006 | PCR; RFLP | Other | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c, TPMT*3D, TPMT*8 | HPLC | [34] |
| Schaeffeler | 2004 | PCR; DHPLC | Caucasian | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c, TPMT*3D | RC | [62] |
| Schwab | 2002 | DHPLC | Caucasian | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c, TPMT*3D | Not specified | [64] |
| Serpe | 2009 | AS-PCR; PCR; RFLP | Other | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c | Not specified | [35] |
| Spire-Vayron de la Moureyre | 1998 | PCR-SSCP; Direct sequencing | European | TPMT*1, TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c, TPMT*1S, TPMT*1A, TPMT*7, TPMT *3d | RC | [67] |
| Spire-Vayron de la Moureyre | 1998 | PCR-SSCP; Direct sequencing | European | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c, TPMT*3D, TPMT*4, TPMT*5, TPMT*6, TPMT*7 | RC | [24] |
| von Ahsen | 2005 | Not specified | Caucasian | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c | RC | [65] |
| Wennerstrand | 2013 | Pyrosequencing | Other | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c, TPMT*3D | RC | [16] |
| Winter | 2007 | PCR; RFLP | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c | Mass spectrometry | [10] | |
| Wusk | 2004 | PCR; sequencing | German | TPMT*2, TPMT*3b, TPMT*3c | HPLC | [11] |
| Xin | 2009 | AS-PCR; PCR; RFLP | Not specified | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c | HPLC | [36] |
| Yates | 1997 | PCR; RFLP | Caucasian | TPMT*1, TPMT*2, TPMT*3a, TPMT*3c | RC | [66] |
| Zhang | 2007 | PCR; RFLP | Not specified | TPMT*2, TPMT*3a, TPMT*3b, TPMT*3c | HPLC | [37] |
ARMS: Multiplex amplifications refractory mutation; AS-PCR: Allele-specific PCR; DHPLC: Denaturing high performance liquid chromatography; RC: Radiochemical method; SSCP: Single strand conformation polymorphism.