- 期刊
Facile Detection of Parental Origin of Rea(21q21q)
並列摘要
We attempted to develop an effective molecular method to determine origin of a de novo rea(21q21q) diagnosed in a male patient with Down syndrome. A panel of 8 highly polymorphic microsatellite markers along the length of chromosome 21 was used. Unlabeled primer sets of the microsatellite DNA markers were extended briefly in the presence of infrared dye (IRD700)-labeled dATP, prior to PCR amplification. Without further purification, amplified products were applied directly to the denaturing sequencing gel, then detected and analyzed with a Li-Cor Model 4200L automatic DNA sequencer. The results revealed that two out of the 8 markers were informative for parental origin of the rea(21q21q) chromosome which reveals maternal in origin. This non-isotopic detection system was proven to be effective and straight forward in determining parental origin of homologous rearrangements such as rea(21q21q) in this case.
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