Two new polymorphisms in the human interferon gamma (IFN-γ) promoter
被引:27
作者:
Chevillard, C
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机构:Fac Med Marseille, INSERM, U3999, F-13385 Marseille, France
Chevillard, C
Henri, S
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机构:Fac Med Marseille, INSERM, U3999, F-13385 Marseille, France
Henri, S
Stefani, F
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机构:Fac Med Marseille, INSERM, U3999, F-13385 Marseille, France
Stefani, F
Parzy, D
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机构:Fac Med Marseille, INSERM, U3999, F-13385 Marseille, France
Parzy, D
Dessein, A
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机构:Fac Med Marseille, INSERM, U3999, F-13385 Marseille, France
Dessein, A
机构:
[1] Fac Med Marseille, INSERM, U3999, F-13385 Marseille, France
[2] Inst Med Trop Serv Sante Armees, F-13998 Marseille, France
来源:
EUROPEAN JOURNAL OF IMMUNOGENETICS
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2002年
/
29卷
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01期
关键词:
D O I:
10.1046/j.0960-7420.2001.00281.x
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
Two new single-nucleotide polymorphisms are described within the human interferon gamma (IFN-gamma) promoter in a Sudanese population. One is a G to T transition at position -183 from the transcription start. The other is a A to G transition at position -155. Allelic frequency analysis indicated frequencies of 0.927 (G) and 0.073 (T) at position -183 and 0.977 (A) and 0.023 (G) at position -155. These two polymorphisms have not been detected in the Centre d'Etude du Polymorphisme Humain (CEPH) reference population. The polymorphism -183(G --> T) may alter the AP-1 binding domain and the regulation of transcription. The polymorphism -155(A --> G) is located close to the nuclear factor-activated T-cell site (NFAT site) (-168 TAAAGGAAA-160) and may affect the stability of this region.