Quantitative polmerase chain reaction for the rapid prenatal diagnosis of homozygous α‐thalassaemia (Hb Barts hydrops fetalis)

Chan, Vivian; Yip, B.; Lam, Yung Hang; Tse, H. Y.; Wong, H. S.; Chan, T. K.

doi:10.1046/j.1365-2141.2001.03112.x

Cited by 24 publications

(12 citation statements)

References 19 publications

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“…Amplification data collected by the Sequence Detector (Model 7700, ABI) were analysed using the Sequence Detection Software (ABI) as previously described [3]. The mean of triplicates was used in each calculation.…”

Section: ■ Analysis Of Datamentioning

confidence: 99%

Carrier incidence for spinal muscular atrophy in southern Chinese

et al. 2004

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A real time quantitative PCR (QPCR) method using TaqMan technology was used to assess the copy number of the two survival motor neuron genes (SMN1 and SMN2) on chromosome 5q13. This allows the accurate determination of carriers for spinal muscular atrophy (SMA), with one copy of SMN1. Analysis of 569 normal southern Chinese individuals revealed a carrier incidence of 1.6%, similar to that found in the western society. Study of 42 obligatory carriers showed a (2 + 0) genotype in two (4.8 %). In 27 SMA patients with homozygous deletion of the SMN1 gene, the number of SMN2 gene correlated with disease phenotype, with 68% of type II and III patients carrying three or more SMN2 genes, whilst the incidence of three or more SMN2 genes in the normal population was 1.57%.

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Section: ■ Analysis Of Datamentioning

confidence: 99%

Carrier incidence for spinal muscular atrophy in southern Chinese

et al. 2004

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“…To date, real-time quantitative PCR has been widely used to quantify viral copy number, to perform gene expression studies, to diagnose genetic diseases, and to quantify gene copy number in transgenic animals, or to measure oncogene amplification in tumor cells [3]. Indeed, many gene deletions or duplications are responsible for genetic disorder and are now diagnosed by quantitative PCR, such as Charcot-Marie-Tooth I, hereditary neuropathy with liability to pressure palsies [4, 5], proximal spinal atrophy [6], α -thalassemia [7], and down syndrome [8]. Moreover, gene dosage of xenobiotic-metabolizing enzymes has already been applied for glutathione S-transferases [9].…”

Section: Introductionmentioning

confidence: 99%

Determination of Cytochrome P450 2D6 (CYP2D6) Gene Copy Number by Real‐Time Quantitative PCR

Bodin

Beaune

Loriot

2005

BioMed Research International

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Gene dosage by real-time quantitative PCR has proved to be accurate for measuring gene copy number. The aim of this study was to apply this approach to the CYP2D6 gene to allow for rapid identification of poor and ultrarapid metabolizers (0, 1, or more than 2 gene copy number). Using the 2−ΔΔCt calculation method and a duplex reaction, the number of CYP2D6 gene copies was determined. Quantitative PCR was performed on 43 samples previously analyzed by Southern blotting and long PCR including 20 samples with a heterozygous deletion, 11 with normal copy number (2 copies), and 12 samples with duplicated genes. The average ratio ranged from 1.02 to 1.28, 1.85 to 2.21, and 2.55 to 3.30, respectively, for the samples with 1 copy, 2 copies, and 3 copies. This study shows that this method is sensitive enough to detect either a heterozygous gene deletion or duplication.

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“…DNA was extracted with the DNeasy Tissue Kit (Qiagen). The copy number of the Rad9 gene was determined by a Taqman-based quantitative PCR method using the ABI PRISM 7700 Sequence Detection System (Applied Biosystems) as described previously (15). The forward and reverse primers as well as the Taqman probe were designed using the Primer Express Software (Applied Biosystems; Table 1).…”

Section: Studies Of Human Breast Tissuesmentioning

confidence: 99%

The Cell Cycle Checkpoint Gene Rad9 Is a Novel Oncogene Activated by 11q13 Amplification and DNA Methylation in Breast Cancer

et al. 2005

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Human Rad9 (hRad9), a structural homologue of yeast Schizosaccharomyces pombe rad9, is involved in cell cycle checkpoints and apoptosis. hRad9 can serve as a corepressor of androgen receptor in prostate cancer cells, but little is known about its role in the development of breast or other cancers. In the present study, semiquantitative reverse transcription-PCR showed that Rad9 mRNA levels were up-regulated in 52.1% (25 of 48) of breast tumors, and this up-regulation correlated with tumor size (P = 0.037) and local recurrence (P = 0.033). Overexpression of Rad9 mRNA was partly due to an increase in Rad9 gene number as measured by quantitative PCR. In other breast tumors with Rad9 mRNA overexpression but without increase in gene number, there was differential methylation of two putative Sp1/3 binding sites within the first and second introns of the Rad9 gene, which was similarly found in MCF-7 breast cancer cell line with increased Rad9 mRNA. Silencing Rad9 expression by RNA interference in MCF-7 cell line inhibited its proliferation in vitro. Promoter assays indicated that the Sp1/3 site in intron 2 may act as a silencer. In vivo binding of Sp3 to intron 2 was shown by chromatin immunoprecipitation assays. Treatment of MCF-7 cell line with 5V -aza-2V -deoxycytidine reduced Rad9 mRNA expression and also increased binding of Sp3 to the demethylated intron 2 region. Collectively, these findings suggest that Rad9 is a novel oncogene candidate activated by 11q13 amplification and DNA hypermethylation in breast cancer and may play a role in tumor proliferation and local invasion. (Cancer Res 2005; 65(19): 8646-54)

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Quantitative polmerase chain reaction for the rapid prenatal diagnosis of homozygous α‐thalassaemia (Hb Barts hydrops fetalis)

Cited by 24 publications

References 19 publications

Carrier incidence for spinal muscular atrophy in southern Chinese

Carrier incidence for spinal muscular atrophy in southern Chinese

Determination of Cytochrome P450 2D6 (CYP2D6) Gene Copy Number by Real‐Time Quantitative PCR

The Cell Cycle Checkpoint Gene Rad9 Is a Novel Oncogene Activated by 11q13 Amplification and DNA Methylation in Breast Cancer

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