与英国雪达犬神经元蜡样脂褐质沉积症相关的遗传标记

Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs.

作者信息

Lingaas F, Aarskaug T, Sletten M, Bjerkås I, Grimholt U, Moe L, Juneja R K, Wilton A N, Galibert F, Holmes N G, Dolf G

机构信息

Norwegian Kennel Club, Norwegian College of Veterinary Medicine, Oslo, Norway.

出版信息

Anim Genet. 1998 Oct;29(5):371-6. doi: 10.1046/j.1365-2052.1998.295358.x.

DOI:10.1046/j.1365-2052.1998.295358.x

PMID:9800325

Abstract

The neuronal ceroid lipofuscinoses (NCL) are a group of fatal autosomal recessive neurodegenerative diseases occurring in human and some domesticated animal species. A canine form of the disease (CNCL) has been extensively studied in a Norwegian colony of inbred English setters since 1960. A resource family developed for genetic mapping and comprising 170 individuals was typed for 103 genetic markers. Linkage analysis showed three genetic markers to be linked to the disease locus with the closest marker at a distance of about 3 CM. Two other loci were linked with these markers making a linkage group of five genetic markers. The linkage group spanned a distance of 54 CM. Two genes for human forms of the disease, CLN2 and CLN3, have been identified and mapped to human chromosome 11p15 and 16p12, respectively. The present study did not indicate any linkage between CNCL and the canine CLN3 homologue or to homologues of markers for genes that map close to human CLN2.

摘要

神经元蜡样脂褐质沉积症（NCL）是一组发生于人类和一些家养动物物种的致命常染色体隐性神经退行性疾病。自1960年以来，一种犬类形式的疾病（CNCL）在挪威一个近交英国塞特犬群体中得到了广泛研究。为基因定位而构建的一个包含170个个体的资源家系，对103个遗传标记进行了分型。连锁分析表明，有三个遗传标记与疾病位点连锁，距离最近的标记约为3厘摩。另外两个位点与这些标记连锁，形成了一个由五个遗传标记组成的连锁群。该连锁群跨度为54厘摩。人类疾病形式的两个基因CLN2和CLN3已被鉴定并分别定位到人类染色体11p15和16p12上。本研究未表明CNCL与犬类CLN3同源物或与定位在人类CLN2附近的基因标记的同源物之间存在任何连锁关系。