## Abstract Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. During the last two decades, the clinical impact of UPD and associated imprinting disorders, such as PraderโWilli syndrome (PWS) and Angelman syndrome (AS) increasingly h
A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7
โ Scribed by Emiliano Giardina; Cristina Peconi; Raffaella Cascella; Cecilia Sinibaldi; Valeria Foti Cuzzola; Anna Maria Nardone; Placido Bramanti; Giuseppe Novelli
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 184 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0173-0835
No coin nor oath required. For personal study only.
โฆ Synopsis
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, CEโbased method for a rapid and economic detection based on twoโfluorescent STR multiplexes.
๐ SIMILAR VOLUMES
Uniparental disomy of chromosome 7 (UPD7) is associated with abnormal phenotypic effects because of inappropriate expression of imprinted genes on chromosome 7. Based on the differential methylation of the promoter region of the imprinted PEG1/MEST locus at 7q32, we designed a multiplex methylation
## Abstract Measuring low amounts of antiโerythropoietin antibodies (antiโEPO Abs) is important to evaluate the therapeutic safety of recombinant human erythropoietin (rhEPO). In this work, a simple, sensitive and highโthroughput chemiluminescent (CL) imaging assay was developed for the detection o
A disposable electrochemical biosensor for the detection of DNA sequences related to the human cytomegalovirus (HCMV) is described. The sensor relies on the adsorption of an amplified human cytomegalovirus DNA strand onto the sensing surface of a screen-printed carbon electrode, and to its hybridiza
A modification of Brook's prelabeling (7sSE) selenomethionine assay was developed and evaluated for detection of complement-dependent antibody (CDA) in a human tumor system. CDA was indeed detected in some breast cancer patients' sera. To determine whether the assay was reliable and reproducible, xe