跨越5q31 - q33的微卫星遗传图谱的构建以及随后肢带型肌营养不良1A型（LGMD1A）基因座在D5S178和IL9之间的定位。
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.
作者信息
Yamaoka L H, Westbrook C A, Speer M C, Gilchrist J M, Jabs E W, Schweins E G, Stajich J M, Gaskell P C, Roses A D, Pericak-Vance M A
机构信息
Department of Medicine, Duke University Medical Center, Durham, NC 27710.
出版信息
Neuromuscul Disord. 1994 Sep-Nov;4(5-6):471-5. doi: 10.1016/0960-8966(94)90086-8.
Limb-girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of disorders. We previously localized an autosomal dominant form of the disorder (LGMD1A) to chromosome 5q22-31 by linkage analysis in a single large pedigree. After developing a microsatellite genetic map incorporating six loci in q31-33 of chromosome 5 and spanning 35 cM, we have refined the original localization. Using multipoint analysis, LGMD1A is localised to a 7 cM region between the markers IL9 and D5S178 with odds > 1000:1.
肢带型肌营养不良症（LGMD）是一组在遗传和临床方面具有异质性的疾病。我们之前通过对一个大型单一家系进行连锁分析，将该疾病的常染色体显性形式（LGMD1A）定位于5号染色体的5q22 - 31区域。在构建了一个包含5号染色体q31 - 33区域六个位点且跨度为35厘摩（cM）的微卫星遗传图谱后，我们对最初的定位进行了优化。通过多点分析，LGMD1A被定位于标记IL9和D5S178之间7厘摩的区域，优势比大于1000:1。
Zotero 插件