A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15

被引：5

作者：

Giardina, Emiliano ^{[1
,2
]}

Peconi, Cristina ^{[1
,2
]}

Cascella, Raffaella ^{[1
,2
]}

Sinibaldi, Cecilia ^{[1
,2
]}

Nardone, Anna Maria ^{[1
,2
]}

Novelli, Giuseppe ^{[1
,2
,3
,4
]}

机构：

[1] Univ Roma Tor Vergata, Sch Med, Dept Biopathol, Ctr Excellence Genom Risk Assessment Multifactori, I-00133 Rome, Italy

[2] PTV Tor Vergata Hosp Rome, Rome, Italy

[3] Univ Arkansas Med Sci, Dept Cardiovasc Med, Little Rock, AR 72205 USA

[4] Fdn Livio Patrizi, Rome, Italy

来源：

ELECTROPHORESIS | 2008年 / 29卷 / 23期

关键词：

Angelman syndrome; Microsatellites; Prader-Willi syndrome; Uniparental disomy;

D O I：

10.1002/elps.200800047

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

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 Prader-Willi syndrome (PWS) and Angelman syndrome (AS) increasingly have come to our attention. About 25% of PWS and 3%-5% of AS are a consequence of UPD with the resulting phenotype generated from the parent of origin of the disomic pair of chromosomes 15. Chromosome 15 UPD testing is relevant in various prenatal diagnostic conditions including apparent confined placental mosaicism, homologous and nonhomologous Robertsonian translocations involving chromosome 15 and 14, and as genomic biomarker for detecting chromosome origin. In this work we developed and validated a two fluorescent STRs multiplex assay for a rapid, economic and fully informative detection of UPD 15 by capillary electrophoresis.

引用

页码：4775 / 4779

页数：5

共 11 条

[1]

Aráoz HV, 2006, GENET MOL RES, V5, P390

[2]

BOTSTEIN D, 1980, AM J HUM GENET, V32, P314

[3] Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes [J].