一项针对患有X连锁中央核肌病的大型家系的连锁研究。
A linkage study of a large pedigree with X linked centronuclear myopathy.
作者信息
Starr J, Lamont M, Iselius L, Harvey J, Heckmatt J
机构信息
Wessex Regional Cytogenetics Unit, Salisbury General Hospital, Wiltshire.
出版信息
J Med Genet. 1990 May;27(5):281-3. doi: 10.1136/jmg.27.5.281.
Abstract
Centronuclear myopathy (CNM) is a muscle wasting disorder that occurs in three distinct forms. Previous studies have shown linkage between the X linked form of the disease and the Xq28 probes ST14, DX13, and F8C. Our study on a previously unreported, three generation, X linked CNM family confirms linkage between these markers and the CNM locus (Z = 3.21, theta = 00). However, results from the laboratory of J-L Mandel (Samson and Hanover, personal communication) on a number of X linked CNM families exclude genetic linkage from the region Xq26-qter, suggesting genetic heterogeneity in this condition.
摘要
中央核肌病（CNM）是一种以三种不同形式出现的肌肉萎缩性疾病。先前的研究表明，该疾病的X连锁形式与Xq28探针ST14、DX13和F8C之间存在连锁关系。我们对一个先前未报道的三代X连锁CNM家族的研究证实了这些标记与CNM基因座之间的连锁关系（Z = 3.21，θ = 00）。然而，J-L·曼德尔实验室（萨姆森和汉诺威，个人交流）对多个X连锁CNM家族的研究结果排除了Xq26-qter区域的遗传连锁，表明这种情况下存在遗传异质性。
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