Siddique T, Roper H, Pericak-Vance M A, Shaw J, Warner K L, Hung W Y, Phillips K L, Lunt P, Cumming W J, Roses A D
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
J Med Genet. 1989 Aug;26(8):487-9. doi: 10.1136/jmg.26.8.487.
Facioscapulohumeral disease is probably a heterogeneous disorder. We have ascertained and sampled two multigeneration families with the neurogenic form of this disorder, considered to be a type of spinal muscular atrophy (FSHSMA). The two families have 36 affected members. Linkage studies with 10 expressed and seven DNA restriction fragment length polymorphism (RFLP) markers failed to show significant linkage (Zmax greater than or equal to 3.00). However, two areas of probable linkage were defined on chromosomes 1p and 4q with the markers MNS (Zmax = 1.47 at theta max = 0.10) and PGM1 (Zmax = 0.94 at theta max = 0.001) respectively. We are using additional RFLPs from these and other areas of the human genome to screen these families for linkage to FSHSMA.
面肩肱型肌营养不良症可能是一种异质性疾病。我们已确定并采集了两个患有这种疾病神经源性形式的多代家庭的样本，这种疾病被认为是脊髓性肌萎缩症的一种类型（面肩肱型脊髓性肌萎缩症，FSHSMA）。这两个家庭共有36名患病成员。使用10个表达型和7个DNA限制性片段长度多态性（RFLP）标记进行连锁研究，未显示出显著连锁（Zmax≥3.00）。然而，分别用标记MNS（在θmax = 0.10时Zmax = 1.47）和PGM1（在θmax = 0.001时Zmax = 0.94）在1号染色体短臂和4号染色体上确定了两个可能的连锁区域。我们正在使用来自人类基因组这些区域和其他区域的额外RFLP来筛查这些家庭与FSHSMA的连锁情况。
