A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7.
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.
Giardina
Emiliano
E
Department of Biopathology, Centre of Excellence for Genomic risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Italy. emiliano.giardina@uniroma2.it
Peconi
Cristina
C
Cascella
Raffaella
R
Sinibaldi
Cecilia
C
Foti Cuzzola
Valeria
V
Nardone
Anna Maria
AM
Bramanti
Placido
P
Novelli
Giuseppe
G
D000653:Amniotic Fluid / Q000737:chemistry; D002897:Chromosomes, Human, Pair 7; D004247:DNA / Q000097:blood / Q000235:genetics; D019075:Electrophoresis, Capillary / Q000379:methods*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D013577:Syndrome; D024182:Uniparental Disomy
D005819:Genetic Markers; D004247:DNA