Bejaoui K, Hirabayashi K, Hentati F, Haines J L, Ben Hamida C, Belal S, Miller R G, McKenna-Yasek D, Weissenbach J, Rowland L P
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Boston, USA.
Neurology. 1995 Apr;45(4):768-72. doi: 10.1212/wnl.45.4.768.
Miyoshi myopathy (MM) is a young-adult-onset, autosomal recessive distal muscular dystrophy initially affecting the plantar flexors. We analyzed 12 MM families, five with consanguineous marriage, for chromosomal linkage using polymorphic microsatellite DNA markers to map the MM gene. A significant lod score was obtained with the 2p12-14 locus D2S291 (Zmax = 15.3 at theta = 0). Two additional 2p12-14 markers, D2S286 (Z = 10.7 at theta = 0) and D2S292 (Z = 7.2 at theta = 0.05), also gave significant lod scores. These markers will be useful for diagnosis of symptomatic and presymptomatic patients, prenatal and carrier diagnosis of family members carrying MM, and ultimately identification of a gene responsible for MM.
宫下肌病（MM）是一种青年起病的常染色体隐性远端肌营养不良症，最初影响跖屈肌。我们使用多态性微卫星DNA标记对12个MM家族（其中5个有近亲结婚情况）进行染色体连锁分析，以定位MM基因。在2p12 - 14位点D2S291处获得了显著的连锁对数计分（在θ = 0时，Zmax = 15.3）。另外两个2p12 - 14标记，D2S286（在θ = 0时，Z = 10.7）和D2S292（在θ = 0.05时，Z = 7.2）也给出了显著的连锁对数计分。这些标记将有助于对有症状和无症状患者进行诊断，对携带MM的家庭成员进行产前和携带者诊断，并最终鉴定出导致MM的基因。
