使用连锁多态性DNA探针进行Werdnig-Hoffmann病的产前预测。
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.
作者信息
Melki J, Abdelhak S, Burlet P, Raclin V, Kaplan J, Spiegel R, Gilgenkrantz S, Philip N, Chauvet M L, Dumez Y
机构信息
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-12, Hôpital des Enfants-Malades, Paris, France.
出版信息
J Med Genet. 1992 Mar;29(3):171-4. doi: 10.1136/jmg.29.3.171.
Werdnig-Hoffmann disease is a common autosomal recessive neuromuscular disorder that results in paralysis and death. No treatment to prevent this disease or to alter its unremitting course has been found. Recently, linkage analysis with cloned DNA probes has shown that the mutation causing Werdnig-Hoffmann disease is located on chromosome 5q12-q14. We performed genetic analysis for the prenatal diagnosis of Werdnig-Hoffmann disease in seven at risk families. Two fetuses were diagnosed as being affected and the remainder as unaffected, and this was confirmed after birth. This study shows that prenatal diagnosis of Werdnig-Hoffmann disease has become feasible.
韦尔尼克 - 霍夫曼病是一种常见的常染色体隐性神经肌肉疾病，可导致瘫痪和死亡。目前尚未找到预防这种疾病或改变其不可阻挡病程的治疗方法。最近，利用克隆的DNA探针进行的连锁分析表明，导致韦尔尼克 - 霍夫曼病的突变位于5号染色体的q12 - q14区域。我们对7个高危家庭进行了基因分析，以进行韦尔尼克 - 霍夫曼病的产前诊断。两名胎儿被诊断为患病，其余胎儿被诊断为未患病，出生后得到了证实。这项研究表明，韦尔尼克 - 霍夫曼病的产前诊断已变得可行。
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