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
in Zh
| WPRIM
| ID: wpr-287396
Responsible library:
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>
Full text:
1
Database:
WPRIM
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 21
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DNA
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Genetic Testing
/
Cloning, Molecular
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Down Syndrome
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Polymorphism, Single Nucleotide
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Asian People
/
Diagnosis
/
Economics
Type of study:
Diagnostic_studies
/
Health_economic_evaluation
/
Prognostic_studies
Aspects:
Determinantes_sociais_saude
Limits:
Female
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Humans
/
Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Document type:
Article