Two new polymorphisms in the human interferon gamma (IFN-γ) promoter

被引：27

作者：

Chevillard, C

Henri, S

Stefani, F

Parzy, D

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 | 2002年 / 29卷 / 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.

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页码：53 / 56

页数：4

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