Bischoff F Z, Feldman G L, McCaskill C, Subramanian S, Hughes M R, Shaffer L G
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hum Mol Genet. 1995 Mar;4(3):395-9. doi: 10.1093/hmg/4.3.395.
Partial isodisomy of 11p has been observed in some patients with Beckwith-Wiedemann syndrome. In this study, we demonstrate somatic mosaicism directly through PCR and single cell analysis on blood lymphocytes from a patient with Beckwith-Wiedemann syndrome. Whole genome amplification was performed on single cells and the resultant product was subjected to locus specific microsatellite marker analysis using PCR. Two populations of cells were detected, a population of cells with normal biparental inheritance for chromosome 11 and a population of cells with partial paternal isodisomy of 11p between markers D11S922 (11p15.5) and D11S904 (11p14-p13). These results are consistent with somatic recombination resulting in mosaicism for paternal isodisomy. The use of single cell PCR is ideal for studying the distribution of mosaicism within and between tissues and has been used in this study to identify a cell line with uniparental disomy in a patient with Beckwith-Wiedemann syndrome.
在一些贝克威思-维德曼综合征患者中观察到了11号染色体短臂的部分等臂双体现象。在本研究中，我们通过对一名贝克威思-维德曼综合征患者的血液淋巴细胞进行PCR和单细胞分析，直接证明了体细胞嵌合现象。对单细胞进行全基因组扩增，然后使用PCR对所得产物进行位点特异性微卫星标记分析。检测到两个细胞群体，一个是11号染色体具有正常双亲遗传的细胞群体，另一个是在标记D11S922（11p15.5）和D11S904（11p14-p13）之间存在11号染色体短臂部分父源等臂双体的细胞群体。这些结果与体细胞重组导致父源等臂双体嵌合现象一致。单细胞PCR的应用对于研究嵌合现象在组织内和组织间的分布非常理想，本研究已使用该方法在一名贝克威思-维德曼综合征患者中鉴定出具有单亲二体的细胞系。
