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| Molecular diagnosis of Down’s syndrome | |
| 引用本文： | Wang S,Jia C,Ren G,Ma Y,Lü W,Ding F,Han J.Molecular diagnosis of Down’s syndrome[J].中华医学杂志(英文版),2003,116(11):1773-1775. |
| 作者姓名： | Wang S Jia C Ren G Ma Y Lü W Ding F Han J |
| 作者单位： | Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100006,China,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100006,China,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100006,China,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100006,China,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100006,China,National Research Institute of Family Planning Commission,Beijing,China (Ding F),Genaco Biomedieal Products,Inc.,USA |
| 摘 要： | Objective To establish a new diagnostic method for Down’s syndrome using polymerase chain reaction (PCR).Methods DNA extracted from five healthy individuals and five Down’s syndrome patients was amplified in six specific tetranucleotide repeat loci on chromosome 21 using PCR. An accurate diagnosis was made by analyzing allelic distribution at each locus. Results All Down’s syndrome patients were identified as having at least two loci with three alleles, while none of the healthy individuals had three alleles. In addition, when two alleles were identified for a particular locus in the Down’s syndrome samples, it was more likely that the intensity ratio between the two alleles was close to 2∶1. Conclusion The molecular method can provide a fast, accurate, and economical alternation for the traditional cytogenetic diagnostic method for Down’s syndrome. |
| 关 键 词： | down’s syndrome diagnosis polymerase chain reaction heterozygous homozygous |
Molecular diagnosis of Down's syndrome |
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| Wang Shuyu,Jia Chanwei,Ren Guoqing,Ma Yanmin,Lü Wei,Ding Feng,Han Jian.Molecular diagnosis of Down's syndrome[J].Chinese Medical Journal,2003,116(11):1773-1775. | |
| Authors: | Wang Shuyu Jia Chanwei Ren Guoqing Ma Yanmin Lü Wei Ding Feng Han Jian |
| Institution: | 1. Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100006, China 2. National Research Institute of Family Planning Commission, Beijing, China 3. Genaco Biomedical Products, Inc., USA |
| Abstract: | Objective To establish a new diagnostic method for Down's syndrome using polymerase chain reaction (PCR). Methods DNA extracted from five healthy individuals and five Down's syndrome patients was amplified in six specific tetranucleotide repeat loci on chromosome 21 using PCR. An accurate diagnosis was made by analyzing allelic distribution at each locus. Results All Down's syndrome patients were identified as having at least two loci with three alleles, while none of the healthy individuals had three alleles. In addition, when two alleles were identified for a particular locus in the Downs syndrome samples, it was more likely that the intensity ratio between the two alleles was close to 2:1. Conclusion The molecular method can provide a fast, accurate, and economical alternation for the traditional cytogenetic diagnostic method for Down's syndrome. |
| Keywords: | down's syndrome diagnosis polymerase chain reaction heterozygous homozygous |
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