ISOLATION OF AN ACTIVE HUMAN TRANSPOSABLE ELEMENT

被引：375

作者：

DOMBROSKI, BA

MATHIAS, SL

NANTHAKUMAR, E

SCOTT, AF

KAZAZIAN, HH

机构：

[1] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,CTR MED GENET,BALTIMORE,MD 21205

[2] JOHNS HOPKINS UNIV,SCH MED,DEPT MED,CTR MED GENET,BALTIMORE,MD 21205

来源：

SCIENCE | 1991年 / 254卷 / 5039期

关键词：

D O I：

10.1126/science.1662412

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Two de novo insertions of truncated L1 elements into the factor VIII gene on the X chromosome have been identified that produced hemophilia A. A full-length L1 element that is the likely progenitor of one of these insertions was isolated by its sequence identity to the factor VII insertion. This L1 element contains two open-reading frames and is one of at least four alleles of a locus on chromosome 22 that has been occupied by an L1 element for at least 6 million years.

引用

页码：1805 / 1808

页数：4

共 29 条

[1] A FAMILY OF LONG REITERATED DNA-SEQUENCES, ONE COPY OF WHICH IS NEXT TO THE HUMAN BETA-GLOBIN GENE [J].