title: Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR).
abstract: Down's syndrome results from the production of three copies of chromosome 21 within a cell. We have devised a method termed the homologous gene quantitative polymerase chain reaction (HGQ-PCR), which uses one pair of primers and which can directly identify the additional copy of chromosome 21 by simultaneously amplifying two highly homologous genes of the human liver-type phosphofructokinase located on chromosome 21 (PFKL-CH21) and the human muscle-type phosphofructokinase located on chromosome 1 (PFKM-CH1) for self-detecting determination. On analysis of 34 cases of Down's syndrome, including two cases of unbalanced translocation 46, XY, der (14; 21) (q10; q10), + 21, and 100 normal individuals, the relative ratio of the PFKM-CH1/PFKL-CH21 product was 1.33 +/- 0.323 (mean +/- SD) and 0.40 +/- 0.16 (mean +/- SD) for disomy DNA and trisomy DNA, respectively. The difference between these two groups was highly significant (P < 0.001). These results indicate that this quantitative method is practical and may be used for the prenatal diagnosis of Down's syndrome caused by trisomy 21.
authors.affiliation: Department of Medical Research and Education, Veterans General-Hospital, Taipei, Taiwan.
authors.forename: H H
authors.initials: HH
authors.lastname: Lee
authors.forename: J G
authors.initials: JG
authors.lastname: Chang
authors.forename: S P
authors.initials: SP
authors.lastname: Lin
authors.forename: H T
authors.initials: HT
authors.lastname: Chao
authors.forename: M L
authors.initials: ML
authors.lastname: Yang
authors.forename: H T
authors.initials: HT
authors.lastname: Ng
mesh_terms: D002478:Cells, Cultured; D004314:Down Syndrome / Q000175:diagnosis*; D018628:Gene Dosage; D006801:Humans; D007091:Image Processing, Computer-Assisted; D010732:Phosphofructokinase-1 / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D011296:Prenatal Diagnosis
chemical_list: D010732:Phosphofructokinase-1