Medizinische Universität Graz - Research portal
Selected Publication:
Pertl, B; Yau, SC; Sherlock, J; Davies, AF; Mathew, CG; Adinolfi, M.
Rapid molecular method for prenatal detection of Down's syndrome.
LANCET. 1994; 343(8907): 1197-1198.
Doi: 10.1016%2FS0140-6736%2894%2992404-X
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- Pertl Barbara
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- Abstract:
- We have evaluated a rapid method that allows prenatal detection of Down's syndrome in less than 24 hours. DNA from uncultured amniotic fluid, fetal blood, and tissue samples was amplified with the small tandem repeat (STR) marker D21S11. Quantitative analysis of fluorescent STR products with evaluation of their sizes provided clear evidence for trisomy 21. Whilst most normal samples showed two amplification peaks of equal size, Down's syndrome samples were characterised by either three STR peaks or two peaks with a ratio of 2:1. Co-amplification with a non-polymorphic sequence allowed analysis of samples that were homozygous for the 21-derived STRs.
- Find related publications in this database (using NLM MeSH Indexing)
- Amniotic Fluid -
- Chromosomes, Human, Pair 21 -
- DNA - analysis
- Down Syndrome - diagnosis
- Female - diagnosis
- Fetal Blood - diagnosis
- Humans - diagnosis
- Polymerase Chain Reaction - methods
- Pregnancy - methods
- Prenatal Diagnosis - methods
- Repetitive Sequences, Nucleic Acid - methods