Two steroid 21-hydroxylase genes are located in the murine S region.
Two steroid 21-hydroxylase genes are located in the murine S region.
复制标题
两个类固醇 21-羟化酶基因位于小鼠 S 区。
作者：
White,PC;Chaplin,DD;Weis,JH;Dupont,B;New,MI;Seidman,JG
21-羟化酶（21-OH）缺乏症是人类常见的甾体生成遗传性疾病，与hla主要组织相容性复合体（MHC）1有关，特别是与hla相关补体蛋白的某些异体型2,3有关。最近，这种疾病被证明是由21-OH酶（也称为细胞色素P-450C21）的结构基因缺陷引起的。4）. 人（HLA）和鼠（H-2） mhc在整体组织和组成基因结构上是同源的5。为了确定21- oh6基因是否位于h - 2复合体中，我们现在使用编码21- oh6部分的牛肾上腺互补DNA克隆来检查来自BALB/c小鼠区域的重叠cosmid克隆集群7。我们发现在这个区域有两个21- oh基因，分别位于3 ‘到4 ’和slpgenes之间。
A common inherited disorder of steroidogenesis in man, 21-hydroxylase (21-OH) deficiency, is linked to theHLAmajor histocompatibility complex (MHC)1, and is associated in particular with certain allotypes of theHLA-linked complement proteins2,3. Recently, this disorder was demonstrated to result from a defective structural gene for the 21-OH enzyme, also termed cytochrome P-450C21(ref. 4). The human (HLA) and murine (H–2) MHCs are homologous in overall organization and in the structures of their component genes5. To determine whether21-OHgenes are located in theH–2complex, we have now used a bovine adrenal complementary DNA clone encoding part of 21-OH6to examine a cluster of overlapping cosmid clones derived from theSregion of the BALB/c mouse7. We found that there are two21-OHgenes in this region, located immediately 3′ to theC4andSlpgenes.