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由于小卫星中重复拷贝数的变异,人类凝血因子VII基因具有多态性。

The human factor VII gene is polymorphic due to variation in repeat copy number in a minisatellite.

作者信息

O'Hara P J, Grant F J

机构信息

ZymoGenetics, Inc., Seattle, WA 98103.

出版信息

Gene. 1988 Jun 15;66(1):147-58. doi: 10.1016/0378-1119(88)90232-6.

Abstract

The gene coding for human factor VII, a vitamin K-dependent coagulation factor, contains five minisatellite imperfect tandem repeats with monomer element lengths ranging from 14 to 37 bp, and copy numbers ranging from 6 to 52. Three of these repeats are entirely within introns, one is entirely in an untranslated portion of an exon, and one spans an exon-intron border and contains coding sequence. A consensus sequence derived from a comparison of the monomers is similar to a core sequence found in other minisatellites. All of the minisatellites display higher-order periodicities. At least one of these minisatellites is polymorphic. A variation in repeat copy number has been observed in a tandem-repeat region in the seventh factor-VII intron.

摘要

编码人凝血因子VII(一种维生素K依赖的凝血因子)的基因包含五个小卫星不完全串联重复序列,其单体元件长度在14至37 bp之间,拷贝数在6至52之间。其中三个重复序列完全位于内含子内,一个完全位于外显子的非翻译部分,一个跨越外显子 - 内含子边界并包含编码序列。通过对单体进行比较得出的共有序列类似于在其他小卫星中发现的核心序列。所有小卫星均显示出高阶周期性。这些小卫星中至少有一个是多态性的。在凝血因子VII第七个内含子的串联重复区域中观察到重复拷贝数的变化。

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