Identification of a human specific Alu insertion in the factor XIIIB gene.
Identification of a human specific Alu insertion in the factor XIIIB gene.
复制标题
鉴定 XIIIB 因子基因中的人类特异性 Alu 插入。
DOI：
10.1007/bf01429214
复制
发表时间：
1994
期刊：
影响因子：
1.5
通讯作者：
Deininger,PL
中科院分区：
文献类型：
--
作者：
Kass,DH;Aleman,C;Batzer,MA;Deininger,PL
因子XIIIB基因进行了检查，以确定先前描述的300 bp限制性片段长度多态性（RFLP）在人群中看到的性质。聚合酶链反应分析因子XIIIB基因内的不同区域，以确定一个高分辨率的地图，该区域包括多态性，然后进行DNA序列分析。插入被认为是这种变化的来源。该重复序列是人类特异性-1（HS-1）亚家族的成员，尽管五个诊断核苷酸之一是Cattarhine特异性（CS）亚家族突变，表明它可能代表这两个亚家族之间进化的中间形式。随后，我们开发了一种基于PCR的检测方法来检测多态性，使其成为遗传连锁研究和基因组作图的更有用的标记。这种插入也是一个有价值的多态性的人群研究，证明了在三个人口群体中看到的等位基因频率的巨大变化。
The factor XIIIB gene was examined to determine the nature of a previously described 300 bp restriction fragment length polymorphism (RFLP) seen in the human population. Polymerase chain reaction analysis of different regions within the factor XIIIB gene was carried out to define a high resolution map of the region encompassing the polymorphism, followed by DNA sequence analysis. AnAluinsertion was found to be the source of this variation. ThisAlurepeat is a member of the human specific-1 (HS-1) subfamily, although one of the five diagnostic nucleotides is a cattarhine specific (CS) subfamily mutation, suggesting that it may represent an intermediate form in the evolution between these two subfamilies. Subsequently, we developed a PCR-based assay to detect the polymorphism, rendering it a more useful marker for genetic linkage studies and genome mapping. This insertion is also a valuable polymorphism for human population studies, as demonstrated by the large variations in allele frequencies seen in three population groups.