Use of primed in situ labeling (PRINS) for the detection of telomeric deletions associated with mental retardation

Bonifacio, Stefania; Centrone, Claudia; Prato, L Da; Scordo, M. R.; Estienne, Margherita; Torricelli, Francesca

doi:10.1159/000056939

Cited by 13 publications

(9 citation statements)

References 6 publications

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“…Telomere screening by quantitative real-time PCR using SYBR-green I dye has many advantages over other gene dosage techniques, including microsatellite analysis [Reed et al, 1994;Flint et al, 1995;Slavotinek et al, 1999;Colleaux et al, 2001;Rio et al, 2002], FISHtechnique with a subtelomeric probe set [Ning et al, 1996;Knight et al, 1997;, primed in situ labeling [Bonifacio et al, 2001], the recently developed M-TEL assay , the MAPH-technique [Armour et al, 2000;Sismani et al, 2001;Hollox et al, 2002;Gable et al, 2003], the MLPAtechnique [Schouten et al, 2002], and CGH metaphase- [Ghaffari et al, 1998] and CGH array-based hybridizations [Veltman et al, 2002].…”

Section: Discussionmentioning

confidence: 99%

Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye

Boehm

Herold

Kuechler³

et al. 2004

Hum. Mutat.

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Telomeric chromosome rearrangements may cause mental retardation, congenital anomalies, miscarriages, and hematological malignancies. Automated detection of subtle deletions and duplications involving telomeres is essential for high-throughput screening procedures, but impractical when conventional cytogenetic methods are used. Novel real-time PCR quantitative genotyping of subtelomeric amplicons using SYBR-green dye allows high-resolution screening of single copy number gains and losses by their relative quantification against a diploid genome. To assess the applicability of the technique in the screening and diagnosis of subtelomeric imbalances, we describe here a blinded study in which DNA from 20 negative controls and 20 patients with known unbalanced cytogenetic abnormalities involving at least one or more telomeres were analyzed using a novel human subtelomere-specific primer set, producing altogether 86 amplicons, in the SYBR-green I-based real-time quantitative PCR screening approach. Screening of the DNA samples from 20 unrelated controls for copy number polymorphism do not detect any polymorphism in the set of amplicons, but single-copy-number gains and losses were accurately detected by quantitative PCR in all patients, except the copy number alterations of the subtelomeric p-arms of the acrocentric chromosomes in two cases. Furthermore, a detailed mapping of the deletion/translocation breakpoint was demonstrated in two cases by novel real-time PCR "primer-jumping." Because of the simplicity and flexibility of the SYBR-green I-based real-time detection, the primer-set can easily be extended, either to perform further detailed molecular characterization of breakpoints or to include amplicons for the detection and/or analysis of syndromes that are associated with genomic copy number alterations, e.g., deletion/duplication-syndromes and malignant cancers.

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Section: Discussionmentioning

confidence: 99%

Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye

Boehm

Herold

Kuechler³

et al. 2004

Hum. Mutat.

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“…As an alternative to multicolor FISH to detect subtelomeric abnormalities, primed in situ labeling (PRINS) of the telomeric hexamer TTAGGG has been reported to detect two telomeric rearrangements in a series of 65 children with unexplained mental retardation [Bonifacio et al, 2001]. However, it remains to be determined whether detection of the telomeric region itself, rather than the subtelomeric region, can be used to screen for subtelomeric abnormalities, because after chromosome breakage-to prevent the chromosome end from degradation-a novel telomere is formed by a process called telomere healing [Lamb et al, 1993;McEachern et al, 2000].…”

Section: Multicolor Fishmentioning

confidence: 99%

Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods

2005

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In recent years, subtelomeric rearrangements, e.g., chromosome deletions or duplications too small to be detected by conventional cytogenetic analysis, have emerged as a significant cause of both idiopathic and familial mental retardation. As mental retardation is a common disorder, many patients need to be tested on a routine basis. In this review, we will discuss the different methods that have been applied in laboratories worldwide, including multiprobe fluorescence in situ hybridization (FISH), multiallelic marker analysis, multiplex amplifiable probe hybridization (MAPH), multiplex ligation-dependent probe amplification (MLPA), quantitative real-time PCR, comparative genomic hybridization (CGH), and multicolor FISH, including spectral karyotyping (SKY), subtelomeric combined binary ratio labeling FISH (S-COBRA FISH), multiplex FISH telomere integrity assay (M-TEL), telomeric multiplex FISH (TM-FISH), and primed in situ labeling (PRINS).

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“…The second large group study (5830 cases), using chromosome microarray analysis (CMA), reported a 4.4% abnormality rate [13] . Bonifacio et al found a 3.1% abnormality rate in 65 patients with PRINS [16] . Koolen reported a 6.7% abnormality rate in 210 patients using MLPA [17] .…”

Section: Discussionmentioning

confidence: 96%

Primed in situ labeling technique for subtelomeric rearrangements in 70 children with idiopathic mental retardation

Tian

et al. 2011

J. Huazhong Univ. Sci. Technol. [Med. Sci.]

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Subtelomeric rearrangements contribute to idiopathic mental retardation (MR), but most children with idiopathic MR do not show any chromosome abnormalities with standard cytogenetic analysis. The primed in situ labeling (PRINS) technique, using an oligonucleotide primer complementary to the telemetric repeat sequences (TTAGGG), can identify chromosome telomeric abnormality (deletion) in idiopathic MR children. In this study, seventy children with idiopathic MR were enrolled and subjected to PRINS. The results showed normal karyotype in all the children, subtelomeric rearrangements (1q del and 4q del) in 2 cases, which was confirmed by fluorescence in situ hybridization (FISH). It was concluded that PRINS is effective for the detection of subtelomeric rearrangements and may become a routine technique for cytogenetical abnormality screening.

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Use of primed in situ labeling (PRINS) for the detection of telomeric deletions associated with mental retardation

Cited by 13 publications

References 6 publications

Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye

Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye

Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods

Primed in situ labeling technique for subtelomeric rearrangements in 70 children with idiopathic mental retardation

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