AN A TO T TRANSVERSION AT POSITION -5 OF THE FACTOR-IX PROMOTER RESULTS IN HEMOPHILIA-B

被引：15
|
作者：
PICKETTS, DJ
DSOUZA, C
BRIDGE, PJ
LILLICRAP, D
机构：
[1] Department of Pathology, Queen's University, Kingston
来源：
GENOMICS | 1992年 / 12卷 / 01期
基金：
英国医学研究理事会;
关键词：
D O I：
10.1016/0888-7543(92)90421-N
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
The molecular pathology that results in hemophilia B has been determined by many studies to be highly variable. Several point mutations have been identified in a 40-bp region within the Factor IX promoter. These include mutations at nucleotides -20, -6, +8, and +13. here we report an A to T transversion at position -5 of the Factor IX gene. There is strong circumstantial evidence to support an important role for this region of the Factor IX promoter in the developmental regulation of the gene through the binding of specific transcription factors. © 1992.
引用
收藏
页码：161 / 163
页数：3
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