Melis M A, Cau M, Congiu R, Puddu R, Muntoni F, Cao A
Istituto di Clinica e Biologia dell'Età Evolutiva, University of Cagliari, Italy.
Clin Genet. 1993 May;43(5):247-9. doi: 10.1111/j.1399-0004.1993.tb03811.x.
In this study we describe a three-generation family in which two siblings were affected by Duchenne muscular dystrophy (DMD). Immunohistochemical analysis of muscle dystrophin and haplotype analysis of the DMD locus revealed that the X chromosome carrying the DMD gene was transmitted from the healthy maternal grandfather to his three daughters, including the proband's mother. These findings indicate that the grandfather was a germinal mosaic for the DMD gene. The definition of the carrier status in two possible carriers led us to give accurate genetic counselling and to prevent the birth of an affected boy. The results of this study demonstrate the usefulness of haplotype analysis and immunohistochemical muscle dystrophin studies to detect hidden germinal mosaicism and to improve genetic counselling.
在本研究中，我们描述了一个三代家庭，其中两名兄弟姐妹患有杜氏肌营养不良症（DMD）。对肌肉肌营养不良蛋白的免疫组织化学分析和DMD基因座的单倍型分析显示，携带DMD基因的X染色体是从健康的外祖父遗传给他的三个女儿的，包括先证者的母亲。这些发现表明外祖父是DMD基因的生殖系嵌合体。对两名可能携带者的携带者状态的定义使我们能够提供准确的遗传咨询，并防止患病男孩的出生。本研究结果证明了单倍型分析和免疫组织化学肌肉肌营养不良蛋白研究在检测隐藏的生殖系嵌合体和改善遗传咨询方面的有用性。
