Suppr超能文献

不同种族起源家庭中斯耶格伦-拉松综合征与17号染色体连锁的确认。

Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins.

作者信息

Lacour M, Middleton-Price H R, Harper J I

机构信息

Department of Dermatology, Great Ormond Street Hospital for Children, London, UK.

出版信息

J Med Genet. 1996 Mar;33(3):258-9. doi: 10.1136/jmg.33.3.258.

Abstract

Linkage analysis in two consanguineous pedigrees of Pakistani and English origin and one further Indian family in which affected subjects have Sjögren-Larsson syndrome (SLS) showed linkage to chromosome 17. Linkage of SLS to D17S783 and D17S805 has been reported in Swedish pedigrees, but since those data were generated from a single ethnic group originating from a common ancestor, there remained the question of whether this disease is genetically heterogeneous. This report confirms the linkage in non-Swedish pedigrees and, therefore, provides evidence to support a single locus for SLS.

摘要

对两个分别来自巴基斯坦和英国的近亲家系以及另一个印度家系进行连锁分析,这些家系中的患病个体患有舍格伦-拉松综合征(SLS),结果显示该综合征与17号染色体连锁。在瑞典家系中已报道SLS与D17S783和D17S805存在连锁关系,但由于这些数据来自于源自共同祖先的单一族群,因此仍存在该疾病是否存在基因异质性的问题。本报告证实了在非瑞典家系中的连锁关系,因此为支持SLS由单一基因座决定提供了证据。

相似文献

4
6
Detailed genetic and physical mapping in the Sjögren-Larsson syndrome gene region in 17p11.2.
Hereditas. 1998;128(3):245-50. doi: 10.1111/j.1601-5223.1998.00245.x.

本文引用的文献

4
Sjögren-Larsson syndrome in Sweden: distribution of the gene.
Clin Genet. 1989 Apr;35(4):272-5. doi: 10.1111/j.1399-0004.1989.tb02942.x.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验