QF‐PCR‐based prenatal detection of aneuploidy in a southeast Asian population

Quaife, R; Wong, Luchin; Tan, Shang Yi; Chua, W. Y.; Lim, Siew; Hammersley, C. J. N.; Yeo, H. L.

doi:10.1002/pd.826

Cited by 18 publications

(16 citation statements)

References 17 publications

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“…As this approach has developed, it has been widely used in numerous countries for >10 years and has proved to be an accurate, less labor-intensive and robust prenatal test for chromosomal aneuploidies (3,4,(6)(7)(8)(9)(10). One of the most evident advantages of QF-PCR is the automation of the procedure, allowing a high throughput of samples at a low cost.…”

Section: Discussionmentioning

confidence: 99%

“…Although several studies have reported the application of QF-PCR in the prenatal diagnosis of common chromosomal aneuploidies, the majority of the markers used were based on a Caucasian population and were not suitable for a Chinese population (3,4,(6)(7)(8)(9)(10). Furthermore, few studies have investigated the polymorphisms of STR markers on chromosome 13 (4,7,10).…”

Section: Introductionmentioning

confidence: 99%

“…One of the most evident advantages of QF-PCR is the automation of the procedure, allowing a high throughput of samples at an extremely low cost; however, the allele frequency and heterozygosity of STR markers vary among different populations. It is important to select STR markers and analyze their genetic polymorphisms prior to using them in prenatal diagnosis in order to minimize the percentage of uninformative QF-PCR results and increase the diagnostic accuracy (8)(9)(10).…”

Section: Introductionmentioning

confidence: 99%

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Genetic polymorphisms of short tandem repeat loci D13S305, D13S631 and D13S634 in the Han population of Tianjin, China

Shi

et al. 2015

Experimental and Therapeutic Medicine

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Abstract. Short tandem repeat (STR) markers, also known as microsatellites, are extensively used in mapping studies, forensics and disease diagnosis due to their small dimension and low mutation and high polymorphism rates. In recent years quantitative fluorescence polymerase chain reaction (QF-PCR) has been successfully used to amplify STR markers in the prenatal diagnosis of common chromosomal abnormalities. This method provides a diagnosis of common aneuploidies 24-48 h after sampling with low error rates and cost; however, the size of different alleles, frequency, heterozygosity and distribution of STR markers vary among different populations. In the present study three STR markers, D13S305, D13S631 and D13S634, on chromosome 13 were analyzed in 350 unrelated individuals (200 males and 150 females) from the Han population of Tianjin, China using QF-PCR. Eleven, seven and 11 alleles of each marker were observed, respectively. The frequencies of the genotypes were in good agreement with Hardy-Weinberg equilibrium (P>0.05). The results showed that these three STR markers were highly polymorphic in the Han population of Tianjin, China. The study has provided basic data for use in the prenatal diagnosis of Patau syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Genetic polymorphisms of short tandem repeat loci D13S305, D13S631 and D13S634 in the Han population of Tianjin, China

Shi

et al. 2015

Experimental and Therapeutic Medicine

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“…For example, Americans have lower heterozygosity at the locus D18S391 (0.75), whereas they have higher heterozygosity at the two loci P39 and DXS8377 (0.87 and 0.95, respectively) (Brown et al, 2006). But, in a Southeast Asian population, Quaife et al (2004) reported that the heterozygosity for D18S391 was as low as 0.61. Gole et al (2008) reported that among the Asian ethnic groups, the Chinese showed a higher heterozygosity index for X22 (90%) as compared to the Indians (72.7%) and Malays (66.6%).…”

Section: Introductionmentioning

confidence: 99%

Validation of quantitative fluorescent-PCR for rapid prenatal diagnosis of common aneuploidies in the Chinese population

Xia²,

Liu³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Quantitative fluorescent polymerase chain reaction (QF-PCR) is an accurate and reliable method for rapid detection of aneuploidy; however, it is not routinely used in China. We aimed to validate QF-PCR as a means for prenatal common aneuploidy screening and to analyze the heterozygosities of short tandem repeat (STR) markers in the Chinese population. The sequences of 19 STR markers in chromosomes 21, 18, 13, X, and Y were designed; three kinds of fluoresceins were used to label the primers, and the QF-PCR detecting conditions were explored and optimized. The results of analysis of 210 prenatal samples by multiplex QF-PCR were compared with karyotyping analysis. All cases were successfully tested by QF-PCR and conventional cytogenetic analysis. QF-PCR results were consistent with the results of cytogenetic analyses, with the exception of two cases. The sensitivity and specificity of QF-PCR to diagnose common aneuploidies were 94.74 and 100%, respectively. The heterozygosities of most of the markers were lower than reported for Western populations, but relatively similar to those of other Asian populations. We conclude that QF-PCR is able to detect the common aneuploidies for prenatal diagnosis with high detection efficacy; therefore it is suitable for rapid prenatal diagnosis and for large-scale testing in laboratories. However, we need to add new STR markers or to find alternative STR markers with high heterozygosity in order to make this technique useful for routine diagnosis.

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“…These abovementioned characteristics explain the wide application of STRs in forensic individual identification, prenatal and postnatal diagnosis of chromosome aneuploidies, and paternity testing (Mansfield, 1993). STR markers demonstrating two peaks are heterozygote and are known as informative markers and those demonstrating only one peak are homozygote and are known as uninformative markers (Andonova et al, 2004;Quaife et al, 2004). In order to perform a reliable and accurate QF-PCR assay, a minimum of two heterozygote markers per chromosome are required to confirm the copy number of the chromosome of interest (Association for Clinical Cytogenetics and Clinical Molecular Genetics Society, 2012).…”

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‐based prenatal detection of aneuploidy in a southeast Asian population

Abstract: The QF-PCR methodology is an efficient cost-effective method of screening for major chromosome aneuploidy, and, for certain referral categories, could be used alone. It also appears to be applicable to patients of different ethnic origins.

Cited by 18 publications

References 17 publications

Genetic polymorphisms of short tandem repeat loci D13S305, D13S631 and D13S634 in the Han population of Tianjin, China

Genetic polymorphisms of short tandem repeat loci D13S305, D13S631 and D13S634 in the Han population of Tianjin, China

Validation of quantitative fluorescent-PCR for rapid prenatal diagnosis of common aneuploidies in the Chinese population

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

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