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人类21-羟化酶基因的限制酶切图谱和限制片段长度多态性

Restriction maps and restriction fragment length polymorphisms of the human 21-hydroxylase genes.

作者信息

Donohoue P A, Jospe N, Migeon C J, McLean R H, Bias W B, White P C, Van Dop C

出版信息

Biochem Biophys Res Commun. 1986 Apr 29;136(2):722-9. doi: 10.1016/0006-291x(86)90499-7.

Abstract

Restriction maps were constructed for the two human 21-hydroxylase genes (21-OHA and 21-OHB) by using DNA from subjects homozygous for a deletion of each gene. Comparing the patterns of these two genes, a KpnI restriction site occurred in the 21-OHA gene in place of a TaqI site in the 21-OHB gene about 1-kb from the 5' end of the gene, and an extra EcoRI site was located 500 bp 5' to the common EcoRI site. The DNA of fourteen unrelated normal subjects was digested with nine restriction endonucleases (AccI, BamHI, BgIII, EcoRI, HindIII, KpnI, MspI, SacI and TaqI). Restriction fragment length polymorphisms were found with EcoRI, HindIII and AccI that resulted from polymorphic endonuclease sites outside the genes.

摘要

通过使用每个基因缺失的纯合子受试者的DNA,构建了两个人类21-羟化酶基因(21-OHA和21-OHB)的限制酶图谱。比较这两个基因的模式,在21-OHA基因中距基因5'端约1 kb处出现了一个KpnI限制酶位点,取代了21-OHB基因中的一个TaqI位点,并且在共同的EcoRI位点5'端500 bp处有一个额外的EcoRI位点。用九种限制性内切酶(AccI、BamHI、BgIII、EcoRI、HindIII、KpnI、MspI、SacI和TaqI)消化了14名无关正常受试者的DNA。发现EcoRI、HindIII和AccI存在限制性片段长度多态性,这是由基因外的多态性内切酶位点导致的。

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