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Article

RS46(DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome.

Human genetics - 1 Sept 1995

Dreesen J C, Geraedts J P, Dumoulin J C, Evers J L, Pieters M H

Abstract excerpt

In order to approach preimplantation testing for the fragile-X syndrome, we used genotyping of the polymorphic RS46(DXS548) locus closely linked to the FMR-1 gene, in single reproductive cells of females. The RS46(DXS548) amplification was adjusted to the single cell level by a two-round polymerase chain reaction (PCR) procedure. Unfertilized oocytes and extruded polar bodies were subjected to PCR. RS46(DXS548)...

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PMID: 7649550
DOI: 10.1007/BF00210416

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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