Claustres M, Kjellberg P, Desgeorges M, Bellet H, Demaille J
INSERM U 249, CRBM/CNRS UPR 8402 and GREPAM, Montpellier, France.
Hum Genet. 1990 Dec;86(2):241-3. doi: 10.1007/BF00197714.
We have identified a Duchenne muscular dystrophy (DMD) pedigree with an unexpected pattern of inheritance. Using marker restriction fragment length polymorphisms detected by probes that lie within and outside the DMD gene, we could demonstrate that the maternal grandfather has transmitted two distinct types of X chromosomes to his offspring. This original observation may be explained by postulating that the DMD mutation must have occurred during mitosis in early germline proliferation, leading to a germline mosaicism within this male ancestor.
我们鉴定出一个杜氏肌营养不良症（DMD）家系，其遗传模式出人意料。利用位于DMD基因内部和外部的探针检测到的标记限制性片段长度多态性，我们能够证明外祖父向其后代传递了两种不同类型的X染色体。这一最初的观察结果可以通过假设DMD突变一定发生在早期生殖系增殖的有丝分裂过程中，导致该男性祖先体内出现生殖系嵌合体来解释。
