Abstract
Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. This condition is often caused by nondisjunction events during meiosis. UPD has been reported as a rare cause of the autosomal recessive disorder and aberrant expression of imprinted genes that are expressed from only one parental allele, either maternal or paternal. Maternal and/or paternal UPD for chromosome 7 is the most frequently observed UPD after UPD15. Here we developed and validated, for the first time, an effective, CE-based method for a rapid and economic detection based on two-fluorescent STR multiplexes.
Original language | English |
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Pages (from-to) | 2008-2011 |
Number of pages | 4 |
Journal | Electrophoresis |
Volume | 30 |
Issue number | 11 |
DOIs | |
Publication status | Published - Jun 2009 |
Keywords
- Microsatellites
- Silver-Russell Syndrome
- STRs
- Uniparental disomy
ASJC Scopus subject areas
- Biochemistry
- Clinical Biochemistry