QF‐PCR: application, overview and review of the literature

Mann, Kathy; Ogilvie, Caroline Mackie

doi:10.1002/pd.2945

Cited by 53 publications

(57 citation statements)

References 39 publications

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“…In most QF-PCR assays, STR alleles are differentiated from each other by length rather than by name (Mann et al, 2001;Jain et al, 2012;Mann and Ogilvie, 2012). In the present study, we explored the genetic nature of the 11 STR markers and named the alleles according to International Society for Forensic Haemogenetics guidelines (Bär et al, 1997), which may enable the use of these STR markers for other genetic tests such as forensic identification.…”

Section: Discussionmentioning

confidence: 99%

“…Over the past few years, rapid diagnosis of chromosome aneuploidies has been successfully achieved using QF-PCR amplification of chromosome-specific STR markers (Mann and Ogilvie, 2012). STR markers should be highly polymorphic and heterogeneous, and thus more likely to provide informative results.…”

Section: Discussionmentioning

confidence: 99%

“…A marker is uninformative if only a single peak is observed. Using highly polymorphic STR markers, QF-PCR has been shown to be a fast and efficient method for detecting common aneuploidies in Western countries (Cirigliano et al, 2001;Mann and Ogilvie, 2012). However, these QF-PCR assays are typically designed for the Caucasian population.…”

Section: Introductionmentioning

confidence: 99%

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Genetic analysis of STR markers on chromosome 21 in a Han population from southeast China

et al. 2015

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ABSTRACT. Short tandem repeats (STRs) are highly polymorphic sequences and have been extensively used as genetic markers in mapping studies, disease diagnosis, and human identity testing. In this study, 11 STR markers on chromosome 21, including D21S1432, D21S11, D21S1246, D21S1412, D21S1437, D21S1442, D21S2039, D21S1270, D21S1435, D21S1409, and D21S1446, were analyzed in 740 unrelated Han individuals from southeast China. A total of 132 alleles, ranging from 7-21 for each locus, were named according to the guidelines of the International Society for Forensic Haemogenetics. The distributions of allelic frequencies for the 11 STRs and population genetic parameters were determined. All 11 STR markers showed high polymorphism and heterogeneity in the southeast Han population, with polymorphism information content of 0.61-0.87, heterogeneity of 64.5-86.1%, and power of discrimination of 0.835-0.973. Among the 11 STR markers, D21S1412, D21S1270, D21S11, and D21S1442 showed relatively higher heterogeneity. Their combination was relatively informative and was used in a quantitative fluorescence-polymerase chain reaction 1719 STR markers on chromosome 21 in southeast Han Chinese ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (1): 1718-1725 (2015 assay to diagnose Down syndrome (trisomy 21) in a southeast Chinese Han population. The genetic information and population data for these 11 STRs may be used not only in quantitative fluorescence-polymerase chain reaction assays but also in forensic studies and other genetic tests.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Genetic analysis of STR markers on chromosome 21 in a Han population from southeast China

et al. 2015

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“…QF-PCR has been widely used for the rapid diagnosis of common chromosome aneuploidies in the USA, the UK, and in other European countries (Mann and Ogilvie, 2012). Hills et al (2010) retrospectively analyzed 737 prenatal diagnostic specimens in region 9 of London, and found that 73 cases with serious maternal contamination could be analyzed by QF-PCR alone.…”

Section: Discussionmentioning

confidence: 99%

Genetic polymorphisms of loci D18S53, D18S59, and D18S488 in fetuses from a Chinese Tianjin Han population

Liu

Shi

et al. 2016

Genet. Mol. Res.

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ABSTRACT. We investigated the genetic polymorphisms of three short tandem repeat (STR) loci, D18S53, D18S59, and D18S488, on chromosome 18 in fetuses from a Chinese Tianjin Han population. Sixty-four villus samples and 374 amniotic fluid samples were collected from fetuses. Quantitative fluorescence polymerase chain reaction was performed to amplify the STR loci, followed by scanned electrophoresis and quantitative analysis of the fluorescence signals. Hardy-Weinberg equilibrium (HWE) analysis was performed based on the genotype distributions of the STR loci to obtain the following population genetic data: genotype frequency, heterozygosity of observation (H O ), polymorphism information content (PIC), probability of discrimination power (PD), and probability of exclusion (PE). We detected 15, 13, and 15 alleles of D18S53, D18S59, and D18S488, respectively. The genotype frequencies were found to be in line with HWE. The

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“…It has been estimated that 5% of all human conceptions are aneuploidy (Hassold and Hunt, 2001). Despite the efficiency of karyotyping as a gold standard technique (Shaffer and Bui, 2007), quantitative fluorescent polymerase chain reaction (QF-PCR) has emerged as a rapid, accurate, cost effective, and high throughput method for prenatal diagnosis of chromosomal aneuploidies (Cirigliano et al, 2006;Mann et al, 2008;Mann and Ogilvie, 2012;Rostami et al, 2015). QF-PCR is a PCR-based technique that amplifies short tandem repeats (STRs) located on chromosomes of interest to determine the copy numbers of those chromosomes present per cell (Langlois and Duncan, 2011).…”

Section: Introductionmentioning

confidence: 99%

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population

et al. 2016

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ABSTRACT. Quantitative fluorescent polymerase chain reaction (QF-PCR), in recent years, has been accepted as a rapid, high throughput, and sensitive method for prenatal diagnosis of common chromosomal aneuploidies. Since short tandem repeats (STRs) are the cornerstone of QF-PCR technique, selection of the most polymorphic STR markers is an essential step for a successful QF-PCR assay. The genetic variation parameters of each STR marker differ among different populations. In this study, we investigated the size, frequency, heterozygosity, polymorphism information content, power of discrimination, and other genetic polymorphism data for 21 STR markers on chromosomes 13, 18, 21, X, and Y in 1000 amniotic fluid samples obtained from south Iranian women. Our results showed that all the 21 STR markers are highly polymorphic and informative in our population. The heterozygosity, polymorphism information content, and power of discrimination of the markers were 62-91.1%, 0.61-0.91, and 0.830-0.976, respectively. The locus D18S386 was the most polymorphic STR, while the locus DXYS218 was the least polymorphic STR among all the studied STRs. The present study has provided extensive data regarding the efficiency of the 21 STR markers for diagnosis of chromosomes 13, 18, 21, X, and Y aneuploidies in the south Iranian population.

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QF‐PCR: application, overview and review of the literature

Cited by 53 publications

References 39 publications

Genetic analysis of STR markers on chromosome 21 in a Han population from southeast China

Genetic analysis of STR markers on chromosome 21 in a Han population from southeast China

Genetic polymorphisms of loci D18S53, D18S59, and D18S488 in fetuses from a Chinese Tianjin Han population

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population

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