Novel thymidylate synthase enhancer region alleles in African populations.

作者: Sharon Marsh , Margaret M. Ameyaw , Jessie Githang'a , Anne Indalo , David Ofori-Adjei

DOI: 10.1002/1098-1004(200012)16:6<528::AID-HUMU11>3.0.CO;2-W

关键词: Allele frequencyEnhancerGeneticsBiologyTandem Repeat SequenceTandem repeatThymidylate synthaseGenotypePolymorphism (computer science)Allele

摘要: Thymidylate synthase (TS) regulates the production of DNA synthesis precursors and is an important target cancer chemotherapy. A polymorphic tandem repeat sequence in enhancer region TS promoter was previously described, where triple gives higher vitro gene expression than a double repeat. We recently identified ethnic differences allele frequencies between Caucasian Asian populations. now describe assessment genotype polymorphism 640 African (African American, Ghanaian Kenyan) (UK, USA) subjects. The were predominant alleles all populations studied. frequency similar Kenyan (49%), (56%), American (52%), (54%) British However, two novel contained 4 9 copies These found at (Kenyan 7%, 3%, 2%) Caucasians (UK 1%, USA 0%). this study decrease with Western migration, while common are relatively stable. This unique example suggesting influence multiple selection pressures within individual Hum Mutat 16:528, 2000.

参考文章(16)
C G Leichman, H J Lenz, L Leichman, K Danenberg, J Baranda, S Groshen, W Boswell, R Metzger, M Tan, P V Danenberg, Quantitation of intratumoral thymidylate synthase expression predicts for disseminated colorectal cancer response and resistance to protracted-infusion fluorouracil and weekly leucovorin. Journal of Clinical Oncology. ,vol. 15, pp. 3223- 3229 ,(1997) , 10.1200/JCO.1997.15.10.3223
Y M Rustum, A Harstrick, S Cao, U Vanhoefer, M B Yin, H Wilke, S Seeber, Thymidylate synthase inhibitors in cancer therapy: direct and indirect inhibitors. Journal of Clinical Oncology. ,vol. 15, pp. 389- 400 ,(1997) , 10.1200/JCO.1997.15.1.389
P G Johnston, E R Fisher, H E Rockette, B Fisher, N Wolmark, J C Drake, B A Chabner, C J Allegra, The role of thymidylate synthase expression in prognosis and outcome of adjuvant chemotherapy in patients with rectal cancer. Journal of Clinical Oncology. ,vol. 12, pp. 2640- 2647 ,(1994) , 10.1200/JCO.1994.12.12.2640
E Kanehira, K Omura, K Kawakami, Y Watanabe, Polymorphic tandem repeats in the thymidylate synthase gene is associated with its protein expression in human gastrointestinal cancers Anticancer Research. ,vol. 19, pp. 3249- 3252 ,(1999)
Luca L Cavalli-Sforza, The DNA revolution in population genetics. Trends in Genetics. ,vol. 14, pp. 60- 65 ,(1998) , 10.1016/S0168-9525(97)01327-9
Nobuyuki Horie, Hideo Aiba, Katsuhiko Oguro, Hiroatsu Hojo, Keiichi Takeishi, Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5'-terminal regulatory region of the human gene for thymidylate synthase Cell Structure and Function. ,vol. 20, pp. 191- 197 ,(1995) , 10.1247/CSF.20.191
E. S.R. Collie-Duguid, Pritchard, Powrie, J. Sludden, Collier, T. Li, H. L. McLeod, The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics. ,vol. 9, pp. 37- 42 ,(1999) , 10.1097/00008571-199902000-00006
D. Wingerchuk, Q. Liu, J. Sobell, S. Sommer, B. G. Weinshenker, A population-based case-control study of the tumor necrosis factor alpha-308 polymorphism in multiple sclerosis Neurology. ,vol. 49, pp. 626- 628 ,(1997) , 10.1212/WNL.49.2.626
William McGuire, Adrian V. S. Hill, Catherine E. M. Allsopp, Brian M. Greenwood, Dominic Kwiatkowski, Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria. Nature. ,vol. 371, pp. 508- 511 ,(1994) , 10.1038/371508A0
Sharon Marsh, Elaina S.R. Collie-Duguid, Tao Li, Xiehe Liu, Howard L. McLeod, Ethnic Variation in the Thymidylate Synthase Enhancer Region Polymorphism Among Caucasian and Asian Populations Genomics. ,vol. 58, pp. 310- 312 ,(1999) , 10.1006/GENO.1999.5833