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.
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Received: 24 June 1996 / Revised: 18 September 1996
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Lee, HH., Chang, JG., Lin, SP. et al. Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR). Hum Genet 99, 364–367 (1997). https://doi.org/10.1007/s004390050373
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DOI: https://doi.org/10.1007/s004390050373