Quantitative pyrosequencing of heterozygous single nucleotide polymorphisms for rapid diagnosis of Down's syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 331-335, 2009.
Article
em Zh
| WPRIM
| ID: wpr-287396
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To establish a method to detect Down's syndrome through quantitative pyrosequencing of the heterozygous single nucleotide polymorphisms (SNPs) on the chromosome 21.</p><p><b>METHODS</b>An improved allele-specific-amplification was used to screen heterozygous SNPs on the chromosome 21 from 84 normal samples. Pyrosequencing was used to quantitatively determine the ratio between the two alleles of a heterozygote, and the diagnosis of Down's syndrome was thus carried out based on the ratio.</p><p><b>RESULTS</b>By genotyping 84 genomic DNA samples from normal Chinese population, 6 SNPs with a relatively high level of heterozygosity were screened out. Heterozygote coverage of 92.9% was achieved by using a panel of 6 SNPs on the chromosome 21. Ten clinical samples from Down's syndrome patients were quantitatively determined by pyrosequencing, and 9 samples were accurately diagnosed by comparing the ratio of the two alleles. The pyrosequencing results showed that the ratio of the two alleles were 2:1 or 1:2 for the Down's syndrome patients.</p><p><b>CONCLUSION</b>The method has the advantage of a low cost, simple process, and time-saving operation and could be potentially applicable to the rapid diagnosis of Down's syndrome.</p>
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 21
/
DNA
/
Testes Genéticos
/
Clonagem Molecular
/
Síndrome de Down
/
Polimorfismo de Nucleotídeo Único
/
Povo Asiático
/
Diagnóstico
/
Economia
Tipo de estudo:
Diagnostic_studies
/
Health_economic_evaluation
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Article