Duchenne muscular dystrophy in monozygotic twins: deletion of 5' fragments of the gene.
Duchenne muscular dystrophy in monozygotic twins: deletion of 5' fragments of the gene.
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DOI：
10.1002/ajmg.1320330116
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发表时间：
1989-05
期刊：
影响因子：
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通讯作者：
V. Ionasescu;C. Searby;R. Ionasescu;S. Patil
中科院分区：
文献类型：
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作者：
V. Ionasescu;C. Searby;R. Ionasescu;S. Patil
对一个双胞胎Duchenne型肌营养不良症(DMD)家系进行了重组DNA缺失检测。患者年龄6岁，从4岁开始有进行性行走困难的病史，表现为臀肌无力、髂腰肌、背阔肌、斜方肌、下斜方肌、胸锁乳突肌、假性肥大小腿和鞋带过紧。两名患者的血清肌酸激酶分别为19,000和11,000 IU，左股外侧肌活检显示营养不良改变。两对双胞胎的ABO、Rh、CDE、MNSs、Kelly、Lewis、Duffy和Kidd的红细胞类型相同。在两对双胞胎中也检测到相同的抗原：A2、B44、DR4和DR5。细胞遗传学研究与46，XY男性正常带型一致。通过cDNA探针检测整个DMD基因是否有缺失或大小异常的限制性片段。这两个双胞胎男孩在Hind III杂交中缺少8.5、8.0、4.6、4.2和3.1kb片段，在Bgl II杂交中均缺少13.5、3.7、2.9和1.4kb片段，均与对应于DMD基因大部分5‘区的cDNA1-2a杂交。患者的母亲和其他亲属没有表现出缺失。这些发现强烈表明，DMD同卵双胞胎中的缺失代表了一种新的突变。
A recombinant DNA study for deletion evaluation was performed in a 4 generation family with Duchenne muscular dystrophy (DMD) in twins. The patients were 6 years old, had a history of progressive difficulty in walking since age 4, and showed weak gluteals, iliopsoas, latissimus dorsi, rhomboids, lower trapezius, sternocleidomastoids, pseudohypertrophic calves, and tight heelcords. Both patients had high serum creatine kinase of 19,000 and 11,000 IU, respectively, and the muscle biopsy of the left vastus lateralis showed dystrophic alterations. Both twins had the same red cell types for ABO, Rh, CDE, MNSs, Kelly, Lewis, Duffy, and Kidd. HLA typing also detected the same antigens in both twins: A2, B44, DR4, and DR5. Cytogenetic studies were consistent with 46, XY male individuals with normal banding pattern. By cDNA probes the entire DMD gene was surveyed for missing or abnormal-sized restriction fragments. Both twin boys showed absence of 8.5, 8.0, 4.6, 4.2, and 3.1 kb fragments on Hind III blots and absence of 13.5, 3.7, 2.9, and 1.4 kb fragments on Bgl II blots both hybridized with cDNA 1-2a corresponding to most 5' region of the DMD gene. The mother and other relatives of the patient did not show deletion. These findings strongly suggest that the deletion in the DMD monozygotic twins represents a new mutation.