Dombroski B A, Mathias S L, Nanthakumar E, Scott A F, Kazazian H H
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Science. 1991 Dec 20;254(5039):1805-8. doi: 10.1126/science.1662412.
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 VIII 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.
已鉴定出X染色体上的凝血因子VIII基因中有两个截短的L1元件从头插入，导致了A型血友病。通过与凝血因子VIII插入序列的同一性，分离出了一个全长L1元件，它可能是其中一个插入元件的祖先。该L1元件包含两个开放阅读框，是22号染色体上一个位点的至少四个等位基因之一，该位点被一个L1元件占据了至少600万年。
