Froissart R, Maire I, Bonnet V, Levade T, Bozon D
Centre d'Etudes des Maladies Métaboliques, Biochimie Bâtiment D, Hôpital Debrousse, Lyon, France.
J Med Genet. 1997 Feb;34(2):137-40. doi: 10.1136/jmg.34.2.137.
Carrier detection in a mucopolysaccharidosis type II family (Hunter disease) allowed the identification of germline and somatic mosaicism in the patient's mother: the R443X mutation was found in a varying proportion in tested tissue (7% in leucocytes, lymphocytes, and lymphoblastoid cells, and 22% in fibroblasts). The proband's sister carries the at risk allele (determined by haplotype analysis), but not the mutation. In sporadic cases of X linked diseases, germline mosaicism of the proband's mother is difficult to exclude and should be considered in genetic counselling.
在一个II型黏多糖贮积症（亨特氏病）家族中进行的携带者检测，使得在患者母亲身上发现了生殖系和体细胞嵌合体：在所检测的组织中发现了比例各异的R443X突变（白细胞、淋巴细胞和成淋巴细胞中为7%，成纤维细胞中为22%）。先证者的姐姐携带风险等位基因（通过单倍型分析确定），但不携带该突变。在X连锁疾病的散发病例中，很难排除先证者母亲的生殖系嵌合体，在遗传咨询中应予以考虑。
