Baerwald C G, Panayi G S, Lanchbury J S
Molecular Immunogenetics and Rheumatology Units, United Medical and Dental School, London, UK.
Hum Genet. 1996 May;97(5):697-8.
We describe the first polymorphism in the 5' flanking region of the corticotropin releasing hormone (CRH) gene. DNA sequencing analysis identified a T --> G base substitution in the 5' flanking region of the gene. This substitution leads to the loss of an XmnI site at position 255 of the Genbank entry X67661. The frequency analysis in 32 Caucasians revealed that it is a rare polymorphism, with only three observed heterozygous individuals for this polymorphism.
我们描述了促肾上腺皮质激素释放激素(CRH)基因5'侧翼区域的首个多态性。DNA测序分析在该基因的5'侧翼区域鉴定出一个T→G碱基替换。此替换导致Genbank登录号为X67661的序列在第255位的XmnI位点缺失。对32名高加索人的频率分析显示,这是一种罕见的多态性,该多态性仅观察到三名杂合个体。