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Received: 2002-06-12

Revision Accepted: 2002-08-23

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Journal of Zhejiang University SCIENCE A 2002 Vol.3 No.5 P.617-621


Rapid detection of chromosome 18 aneuploidies in amniocytes by using primed in situ labeling (PRINS) technique

Author(s):  YANG Jian-bin, ZHENG Shu

Affiliation(s):  Cancer Institute, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310009, China

Corresponding email(s):   bqyjb@mail.hz.zj.cn, zhengshu@mail.hz.zj.cn

Key Words:  Primed in situ labeling (PRINS), Prenatal diagnosis, Chromosome 18

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YANG Jian-bin, ZHENG Shu. Rapid detection of chromosome 18 aneuploidies in amniocytes by using primed in situ labeling (PRINS) technique[J]. Journal of Zhejiang University Science A, 2002, 3(5): 617-621.

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T1 - Rapid detection of chromosome 18 aneuploidies in amniocytes by using primed in situ labeling (PRINS) technique
A1 - YANG Jian-bin
A1 - ZHENG Shu
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PB - Zhejiang University Press & Springer
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DOI - 10.1631/jzus.2002.0617

This paper presents a feasible method for rapid detection of the interphase nuclei of uncultured amniocytes for chromosomes 18 by using our modified primed in situ labeling (PRINS) technique. A total of 262 independent, uncultured amniotic fluid samples were analysed in a blind fashion before the karyotype was available. In addition, 62 samples were examined by fluorescence in situ hybridization (FISH) for comparison. In more than 95% of the samples PRINS reactions with primer 18cen were successfully induced. Two samples were properly identified and correctly scored as trisomic 18. PRINS reaction could be performed automatically in less than one hour with a programmable thermocycler. Our studies showed that the PRINS technique is simple, rapid and cost-effective. It is as sensitive and specific as FISH; can enhance the accuracy of standard cytogenetic analysis; and allows identification of chromosomes 18 aneuploidies in uncultured amniocytes in significantly less time.

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[6] Koch, J., Hindkjær, J., Kφlvraa, S., Bolund, L.,1995. Construction of a panel of chromosome-specific oligonucleotide probes (PRINS-primers) useful for the identification of individual human chromosomes in situ. Cytogenet. Cell Genet., 71: 142-147.

[7] Whiteman, D. A. H., Klinger, K., 1991. Efficiency of rapid in situ hybridization methods for prenatal diagnosis of chromosome abnormalities causing birth defects. Am. J. Hum Genet., 49 suppl: A1279.

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