Upadhyaya M, Lunt P, Sarfarazi M, Broadhead W, Farnham J, Harper P S
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, United Kingdom.
Am J Hum Genet. 1992 Aug;51(2):404-10.
Four DNA markers on the distal long arm of chromosome 4 have been analyzed for their linkage relationship to facioscapulohumeral muscular dystrophy (FSHD) in a series of 23 families with this disease. Two hypervariable markers, pH30 (D4S139) and EFD 139.1 (D4S184), both show close linkage with the disorder, with a maximum recombination fraction (theta max) of .02 and a maximum lod score (Zmax) of 36.77 and 34.50, respectively; two other markers, the locus for factor XI (F11) and the microsatellite marker Mfd22 (D4S171), both show less close linkage, with respective theta max of .16 (Zmax = 3.40) for F11 and .24 (Zmax = 1.61) for D4S171. While the relative ordering and orientation of the loci on the chromosome remain provisional, analysis of 15 individual recombination events in seven families supports the order D4S171-F11-D4S184-D4S139-FSHD, with the disease locus telomeric to all four markers.
在一系列23个患有面肩肱型肌营养不良症（FSHD）的家庭中，对位于4号染色体长臂远端的四个DNA标记与该疾病的连锁关系进行了分析。两个高变标记，pH30（D4S139）和EFD 139.1（D4S184），均显示与该疾病紧密连锁，最大重组率（θmax）分别为0.02，最大对数优势分数（Zmax）分别为36.77和34.50；另外两个标记，因子XI（F11）基因座和微卫星标记Mfd22（D4S171），连锁关系较不紧密，F11的θmax为0.16（Zmax = 3.40），D4S171的θmax为0.24（Zmax = 1.61）。虽然染色体上各基因座的相对顺序和方向仍为暂定，但对七个家庭中15个个体重组事件的分析支持D4S171 - F11 - D4S184 - D4S139 - FSHD的顺序，疾病基因座位于所有四个标记的端粒侧。
