Pelotti S, Bini C, Ceccardi S, Ferri G, Abbondanza A, Greggio N A, Ponzano E, Caenazzo L
Section of Legal Medicine, University of Bologna, 40126 Bologna, Italy.
Genet Test. 2003 Fall;7(3):245-7. doi: 10.1089/109065703322537278.
In this study, we describe a pentaplex PCR to determine the parental origin of the X chromosome and the presence of mosaicism, via amplification of four polymorphic markers located along the X chromosome (DXS10011, DXS6807, HUMARA, DXS101) and the X-Y amelogenin marker, in 41 families having a daughter with Turner Syndrome. Our results confirmed the cytogenetic findings and we found that the parental origin of the single X chromosome to be maternal in 84% of cases.
在本研究中，我们描述了一种五重PCR方法，通过对位于X染色体上的四个多态性标记（DXS10011、DXS6807、HUMARA、DXS101）以及X-Y牙釉蛋白标记进行扩增，来确定41个有特纳综合征女儿的家庭中X染色体的亲本来源和嵌合体的存在情况。我们的结果证实了细胞遗传学的发现，并且我们发现，在84%的病例中，单一X染色体的亲本来源为母系。
