Rapid detection of 18-trisomy syndrome using primed in situ labeling technique.

Author: Jian-bin YANG ¹ ; Shu ZHENG
Author Information

1. Cancer Institute, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, PR China.
Publication Type:Journal Article
MeSH: Amniocentesis; methods; Chromosomes, Human, Pair 18; genetics; Female; Gestational Age; Humans; Pregnancy; Primed In Situ Labeling; methods; Reproducibility of Results; Sensitivity and Specificity; Trisomy; diagnosis; genetics
From: Chinese Journal of Medical Genetics 2004;21(1):74-76
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo develop a rapid method for the detection of chromosomes and try to verify the feasibility of using modified primed in situ labeling (PRINS) technique for rapid detection of the interphase nuclei of uncultured amniocytes.
METHODSChromosome 18 was detected and analyzed by the modified PRINS in 262 amniotic fluid samples.
RESULTSThe specific chromosomes were obtained on both metaphase and interphase nuclei. 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.
CONCLUSIONThe results suggest that PRINS technique is simple, rapid and cost-effective. It is sensitive, specific, and thus can enhance the accuracy of standard cytogenetic analysis.