Rapid detection of sex chromosomal aneuploidies by PCR.

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dc.contributor.authorMehra, Sen_US
dc.contributor.authorSchmid, Wen_US
dc.contributor.authorSpiegel, Ren_US
dc.date.accessioned1995-03-01en_US
dc.date.accessioned2009-05-27T07:22:22Z
dc.date.available1995-03-01en_US
dc.date.available2009-05-27T07:22:22Z
dc.date.issued1995-03-01en_US
dc.description.abstractIn this report we present a method to determine sex chromosomal aneuploidies by duplex polymerase chain reaction with sufficient precision to distinguish between one, two and more copies of X and Y sequences. We coamplified an autosomal gene segment (exon 33 of neurofibromatosis type I gene on chromosome 17) as an internal standard for our sequence of interest (AMXY) on X and Y chromosomes. By using this standard as a reference for two gene copies we could visually estimate the relative gene dosage for the X-, and Y-specific AMXY sequences in the DNA sample under consideration. We have evaluated this method in normal males and females and in patients with known sex chromosomal aneuploidies and have found it to be a reliable and quick tool for detection of numerical sex chromosomal abnormalities.en_US
dc.description.affiliationInstitute of Medical Genetics, University of Zürich, Switzerland.en_US
dc.identifier.citationMehra S, Schmid W, Spiegel R. Rapid detection of sex chromosomal aneuploidies by PCR. Indian Journal of Medical Research. 1995 Mar; 101(): 111-4en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/20438
dc.language.isoengen_US
dc.source.urihttps://icmr.nic.in/ijmr/ijmr.htmen_US
dc.subject.meshAneuploidyen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshSex Chromosome Aberrations --geneticsen_US
dc.subject.meshTime Factorsen_US
dc.titleRapid detection of sex chromosomal aneuploidies by PCR.en_US
dc.typeJournal Articleen_US
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