title: [Detecting human chromosome anomalies with primed in situ labeling (PRINS)].
abstract: Numerical chromosome anomaly was one of the most important kinds of human chromosome diseases by inducing pregnancy loss, miscarriage, infant death, congenital malformations and nerve damage. The present study was to establish a rapid, reliable and reasonable multicolor primed in situ labeling (PRINS) protocol for diagnosing numerical anomaly in human chromosome. First, nuclei of cultured lymphocytes and sperms were labeled with the method of PRINS, and then nuclei of cultured lymphocytes, sperms and other specimen were labeled with the method of updated non-ddNTP-blocking multicolor PRINS technique. The labeling effect of different target sequences and the feature of different fluorochromes were evaluated by experiment. Meanwhile, several parameters of PRINS were optimized to obtain more homogeneous and stable labeling effect. At last, the applicative value of PRINS was evaluated by comparing the clinical effect and labeling characteristics between FISH probe and PRINS. In the present study, several chromosomes were simultaneously marked successfully in the same sperm nucleus within 2.5 hours. And the frequency of one-color-labeling reached 99%. The many advantages, compared with FISH, make PRINS become the first choice in diagnosing diseases related to numerical anomaly in human chromosome.
authors.affiliation: Key Laboratory of Bio-resources and Eco-environment of Ministry of Education, Institute of Medical Genetics, Sichuan University, Chengdu 610064, China. zyjlife@163.com
authors.forename: Yi-Jian
authors.initials: YJ
authors.lastname: Zhu
authors.forename: Di-Shi
authors.initials: DS
authors.lastname: Liu
authors.forename: Xian-Ping
authors.initials: XP
authors.lastname: Ding
mesh_terms: D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020401:Primed In Situ Labeling / Q000379:methods*; D015203:Reproducibility of Results