title: A novel diagnostic strategy for trisomy 21 using short tandem repeats.
abstract: Molecular technique with STRs can rapidly diagnose aneuploidy. In order to improve its fidelity, we developed a novel STR-based strategy for fast diagnosis of trisomy 21 and constructed a multimarker diagnostic system according to it. The system is based on nine STRs, of which two were previously known and seven were newly identified from the genomic sequence of the long arm of chromosome 21. They were confirmed to be highly polymorphic in the Chinese population by PCR amplification and gel electrophoresis. The combination of nine STR markers, when applied to DNA from 102 Chinese individuals with normal karyotype, did not yield any false-positives, and clearly revealed three different alleles in DNA from 15 out of 18 trisomy 21 patients. The results show that our new strategy can provide an alternative molecular technique for the rapid detection of aneuploidy.
authors.affiliation: Department of Forensic Genetics, Institute of Preliminary and Forensic Medicine, Chengdu, Sichuan, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Yan
authors.forename: Jin
authors.initials: J
authors.lastname: Wu
authors.forename: Yingbi
authors.initials: Y
authors.lastname: Li
authors.forename: He
authors.initials: H
authors.lastname: Wang
authors.forename: Zhongying
authors.initials: Z
authors.lastname: Huang
authors.forename: Xueping
authors.initials: X
authors.lastname: Zhou
authors.forename: Weijuan
authors.initials: W
authors.lastname: Zhang
authors.forename: Yiping
authors.initials: Y
authors.lastname: Hou
mesh_terms: D000483:Alleles; D000782:Aneuploidy; D002681:China; D002891:Chromosomes, Human, Pair 21; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020080:Tandem Repeat Sequences