Rapid diagnosis of aneuploidy in chromosomes 13, 18, 21, X and Y by quantitative fluorescence-PCR combined with short tandem repeat and fluorescence-labeled homologous gene quantitative‑PCR using 4-color fluorescently labeled universal primers

Long,Ju; Ye,Xuehe; Weng,Xunjin; Fu,Kepeng; Sun,Lei; Pang,Wanrong

doi:10.3892/mmr.2013.1678

Rapid diagnosis of aneuploidy in chromosomes 13, 18, 21, X and Y by quantitative fluorescence-PCR combined with short tandem repeat and fluorescence-labeled homologous gene quantitative‑PCR using 4-color fluorescently labeled universal primers

Authors:
- Ju Long
- Xuehe Ye
- Xunjin Weng
- Kepeng Fu
- Lei Sun
- Wanrong Pang
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Affiliations: Laboratory of Medical Genetics, Maternal and Child Health Care Hospital of Qinzhou, Guangxi 535099, P.R. China
Published online on: September 13, 2013 https://doi.org/10.3892/mmr.2013.1678
Pages: 1601-1605

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Abstract

The present study aimed to develop a rapid diagnostic test of aneuploidy in chromosomes 13, 18, 21, X and Y through a program combining short tandem repeat (STR) typing with fluorescence-labeled homologous gene quantitative‑polymerase chain reaction (fHGQ-PCR), which avoids misjudgment risks by using one method alone. Furthermore, fluorescently labeled universal primers not only ensure the accuracy of the results but also reduces the cost of fluorescent labels. The verification of DNA extracted from samples confirmed by karyotype analysis with quantitative fluorescence (QF)-PCR shows that the results obtained using the QF-PCR program are consistent with the results of karyotype analysis in rapidly diagnosing the aneuploidy of chromosomes 13, 18, 21, X and Y.

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1	Ochshorn Y, Bar-Shira A, Jonish A and Yaron Y: Rapid prenatal diagnosis of aneuploidy for chromosomes 21, 18, 13, and X by quantitative fluorescence polymerase chain reaction. Fetal Diagn Ther. 21:326–331. 2006. View Article : Google Scholar : PubMed/NCBI
2	Andonova S, Vazharova R, Dimitrova V, Mazneikova V, Toncheva D and Kremensky I: Introduction of the QF-PCR analysis for the purposes of prenatal diagnosis in Bulgaria - estimation of applicability of 6 STR markers on chromosomes 21 and 18. Prenat Diagn. 24:202–208. 2004. View Article : Google Scholar : PubMed/NCBI
3	Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, et al: DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 14:296–305. 2012. View Article : Google Scholar : PubMed/NCBI
4	Lin HY, Lin SP, Chen YJ, et al: Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004. Am J Med Genet A. 140:945–951. 2006.PubMed/NCBI
5	Shin SH, Yu JS, Park SW, et al: Genetic analysis of 18 X-linked short tandem repeat markers in Korean population. Forensic Sci Int. 147:35–41. 2005. View Article : Google Scholar : PubMed/NCBI
6	Kim UK, Chae JJ, Lee SH, et al: Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis. Mol Cells. 13:385–388. 2002.PubMed/NCBI
7	Cirigliano V, Ejarque M, Fuster C and Adinolfi M: X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. Mol Hum Reprod. 8:1042–1045. 2002. View Article : Google Scholar : PubMed/NCBI
8	Lee HH, Chang JG, Lin SP, Chao HT, Yang ML and Ng HT: Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR). Hum Genet. 99:364–367. 1997. View Article : Google Scholar : PubMed/NCBI
9	Shen M, Haggblom C, Vogt M, Hunter T and Lu KP: Characterization and cell cycle regulation of the related human telomeric proteins Pin2 and TRF1 suggest a role in mitosis. Proc Natl Acad Sci USA. 94:13618–13623. 1997. View Article : Google Scholar : PubMed/NCBI
10	Baig S, Ho SS, Ng BL, Chiu L, Koay ES, Leow GH, et al: Development of quantitative-fluorescence polymerase chain reaction for the rapid prenatal diagnosis of common chromosomal aneuploidies in 1,000 samples in Singapore. Singapore Med J. 51:343–348. 2010.
11	Liang W, Zhang L, Chen G, Xin J, Liao M and Wu MY: Allele distributions for D21S1435 and D21S2055 loci in two Chinese populations. J Forensic Sci. 47:667–668. 2002.PubMed/NCBI
12	Schmidt W, Jenderny J, Hecher K, Hackelöer BJ, Kerber S, Kochhan L and Held KR: Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod. 6:855–860. 2000. View Article : Google Scholar : PubMed/NCBI
13	Vats KR, Ishwad C, Singla I, Vats A, Ferrell R, Ellis D, et al: A locus for renal malformations including vesico-ureteric reflux on chromosome 13q33–34. J Am Soc Nephrol. 17:1158–1167. 2006.PubMed/NCBI
14	Asmundo A, Perri F and Sapienza D: Allele distribution of two X-chromosomal STR loci in a population from Sicily (Southern Italy). International Congress Series. 1288:346–348. 2006. View Article : Google Scholar
15	Shadrach B, Commane M, Hren C and Warshawsky I: A rare mutation in the primer binding region of the amelogenin gene can interfere with gender identification. J Mol Diagn. 6:401–405. 2004. View Article : Google Scholar : PubMed/NCBI
16	Roffey PE, Eckhoff CI and Kuhl JL: A rare mutation in the amelogenin gene and its potential investigative ramifications. J Forensic Sci. 45:1016–1019. 2000.PubMed/NCBI
17	Huang MM, Arnheim N and Goodman MF: Extension of base mispairs by Taq DNA polymerase: implications for single nucleotide discrimination in PCR. Nucleic Acids Res. 20:4567–4573. 1992. View Article : Google Scholar : PubMed/NCBI
18	Leclair B, Frégeau CJ, Bowen KL and Fourney RM: Systematic analysis of stutter percentages and allele peak height and peak area ratios at heterozygous STR loci for forensic casework and database samples. J Forensic Sci. 49:968–980. 2004. View Article : Google Scholar : PubMed/NCBI