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第二届全国周围神经及肌病学术研讨会,于1991年6月27日至29日在杭州市召开。现就有关疾病的研究现状及展望概述如下。 (一) 假肥大型进行性营养不良症 包括严重型DMD和良性Becker型。前者主要表现为进行性肌肉萎缩和力弱,2～3岁发病,11岁后丧失生活能力,30岁前死亡;后者表现与前者大致相同,但发病及丧失活动能力较晚。 对DMD基因定位的研究,发现X染色体与常染色体发生易位,均发生在X染色体短臂XP~(21),从而推测DMD基因位于XP~(21)断裂点处,进一步研究证明DMD基因图谱确定在XP~(21.2)～XP~(21.3)亚带间。DMD基因是目前鉴定的人类最大的基因,长度为2000Kb,用CDNA做探针分析DMD患者,
The Second National Symposium on Peripheral Nerves and Myopathies was held in Hangzhou from June 27 to June 29, 1991. The current status and outlook of disease research are summarized as follows. (A) of the duchenky progressive malnutrition, including severe DMD and benign Becker type. The former mainly manifested progressive muscular atrophy and weakness, 2 to 3 years of age, after the age of 11, loss of life, before the death of 30 years of age; the latter with the former roughly the same, but the incidence and loss of activity late. The study of DMD gene localization found that the X chromosome and the autosomal translocation occurred on the short arm of X chromosome (21), and thus the DMD gene was located at the break point of XP 21. Further study proved that the DMD gene map Determined in the XP ~ (21.2) ~ XP ~ (21.3) sub-band. DMD gene is currently identified as the largest human gene, the length of 2000Kb, with CDNA probe for the analysis of DMD patients,