Rapid Allele-Specific PCR method for CDA 79A>C (K27Q) genotyping: A useful pharmacogenetic tool and world-wide polymorphism distribution

Clinica Chimica Acta

Volumn 412, Issue 23-24, 2011, Pages 2237-2240

  Carpi, Francesco M ^a   Xu, Jialin ^b   Vincenzetti, Silvia ^a   Vita, Alberto ^a   Cai, Wei Min ^b   Napolioni, Valerio ^a  

^a UNIVERSITY OF CAMERINO   (Italy)

^b FUDAN UNIVERSITY   (China)

Author keywords

Allele specific PCR; Cancer; Cytidine deaminase; Ethnic differences; Pharmacogenetics; Polymorphism

Indexed keywords

CYTIDINE DEAMINASE; DNA;

ADULT; AFRICAN; AFRICAN AMERICAN; ALLELE; ARTICLE; ASIAN; CAUCASIAN; CONTROLLED STUDY; DNA EXTRACTION; ETHNIC GROUP; ETHNICITY; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HAN CHINESE; HAPLOTYPE MAP; HUMAN; HUMAN EXPERIMENT; ITALIAN; MALE; MASS SCREENING; NORMAL HUMAN; ONCOGENE; ONCOGENE CDA; POLYMERASE CHAIN REACTION; POPULATION DIFFERENTIATION; PRIORITY JOURNAL; RAPID ALLELE SPECIFIC POLYMERASE CHAIN REACTION; REPRODUCIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; BASE SEQUENCE; DNA PRIMERS; GENOTYPE; HUMANS; PHARMACOGENETICS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 80053629026     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2011.08.015     Document Type: Article

References (18)

1. Vincenzetti S., Carpi F.M., Vita A. The cytidine deaminase family: a review. Curr Top Pept Protein Res 2009, 10:1-22.
2. Raynal C., Ciccolini J., Mercier C., Boyer J.C., Polge A., Lallemant B., et al. High-resolution melting analysis of sequence variations in the cytidine deaminase gene (CDA) in patients with cancer treated with gemcitabine. Ther Drug Monit 2010, 32:53-60.
3. Carpi F.M., Vincenzetti S., Micozzi D., Vita A., Napolioni V. PCR-based methods for CDA K27Q and A70T genotyping: genotypes and alleles distribution in a central Italy population. Mol Biol Rep 2010, 37:3363-3368.
4. Mercier C., Raynal C., Dahan L., Ortiz A., Evrard A., Dupuis C., et al. Toxic death case in a patient undergoing gemcitabine-based chemotherapy in relation with cytidine deaminase downregulation. Pharmacogenet Genomics 2007, 17:841-844.
5. Sugiyama E., Lee S.J., Lee S.S., Kim W.Y., Kim S.R., Tohkin M., et al. Ethnic differences of two non-synonymous single nucleotide polymorphisms in CDA gene. Drug Metab Pharmacokinet 2009, 24:553-556.
6. Sugiyama E., Kaniwa N., Kim S.R., Kikura-Hanajiri R., Hasegawa R., Maekawa K., et al. Pharmacokinetics of gemcitabine in Japanese cancer patients: the impact of a cytidine deaminase polymorphism. J Clin Oncol 2007, 25:32-42.
7. Chew H.K., Doroshow J.H., Frankel P., Margolin K.A., Somlo G., Lenz H.J., et al. Phase II studies of gemcitabine and cisplatin in heavily and minimally pretreated metastatic breast cancer. J Clin Oncol 2009, 27:2163-2169.
8. Bhatla D., Gerbing R.B., Alonzo T.A., Conner H., Ross J.A., Meshinchi S., et al. Cytidine deaminase genotype and toxicity of cytosine arabinoside therapy in children with acute myeloid leukemia. Br J Haematol 2009, 144:388-394.
9. Giovannetti E., Laan A.C., Vasile E., Tibaldi C., Nannizzi S., Ricciardi S., et al. Correlation between cytidine deaminase genotype and gemcitabine deamination in blood samples. Nucleosides Nucleotides Nucleic Acids 2008, 27:720-725.
10. Farrell JJ, Bae K, Wong J, Guha C, Dicker AP, Elsaleh H. Cytidine deaminase single-nucleotide polymorphism is predictive of toxicity from gemcitabine in patients with pancreatic cancer: RTOG 9704. Pharmacogenomics J in press, doi: [Electronic publication ahead of print]. http://10.1038/tpj.2011.22.
11. Kirch H.C., Schröder J., Hoppe H., Esche H., Seeber S., Schütte J. Recombinant gene products of two natural variants of the human cytidine deaminase gene confer different deamination rates of cytarabine in vitro. Exp Hematol 1998, 26:421-425.
12. Gilbert J.A., Salavaggione O.E., Ji Y., Pelleymounter L.L., Eckloff B.W., Wieben E.D., et al. Gemcitabine pharmacogenomics: cytidine deaminase and deoxycytidylate deaminase gene resequencing and functional genomics. Clin Cancer Res 2006, 12:1794-1803.
13. Yue L., Saikawa Y., Ota K., Tanaka M., Nishimura R., Uehara T., et al. A functional single-nucleotide polymorphism in the human cytidine deaminase gene contributing to ara-C sensitivity. Pharmacogenetics 2003, 13:29-38.
14. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16:1215.
15. Teng Y.S., Anderson J.E., Giblett E.R. Cytidine deaminase: a new genetic polymorphism demonstrated in human granulocytes. Am J Hum Genet 1975, 27:492-497.
16. Fukunaga A.K., Marsh S., Murry D.J., Hurley T.D., McLeod H.L. Identification and analysis of single-nucleotide polymorphisms in the gemcitabine pharmacologic pathway. Pharmacogenomics J 2004, 4:307-314.
17. Parmar S., Seeringer A., Denich D., Gärtner F., Pitterle K., Syrovets T., et al. Variability in transport and biotransformation of cytarabine is associated with its toxicity in peripheral blood mononuclear cells. Pharmacogenomics 2011, 12:503-514.
18. Soo R.A., Wang L.Z., Ng S.S., Chong P.Y., Yong W.P., Lee S.C., et al. Distribution of gemcitabine pathway genotypes in ethnic Asians and their association with outcome in non-small cell lung cancer patients. Lung Cancer 2009, 63:121-127.