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Molecular diagnosis of Down's syndrome 被引量:1
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作者 王树玉 贾婵维 +4 位作者 任国庆 马延敏 吕巍 丁锋 韩健 《Chinese Medical Journal》 SCIE CAS CSCD 2003年第11期1773-1775,共3页
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 s... 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. 展开更多
关键词 down' s syndrome ·diagnosis polymerase chain reaction HETEROZYGOUS HOMOZYGOUS
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