Identification and quantification of masaicism for trisomies using the polymerase chain reaction (PCR)
- Diagnostic Genetic Center, Athens (Greece)
- Bio Technology Trading Company, Inc., Lebanon, NH (United States)
We have developed a method for identifying and quantifying mosaicism for trisomy 21 and other trisomies using PCR. Our previous experience has showed that mosaicism can be visualized using short sequence repeat (SSR) polymorphic markers in the cases where the supernumerary chromosome has a meiotic origin (60% for mosaic trisomy 21). This approach has the advantage that mosaicism can be detected in small samples of any type of nucleated cells as opposed to cytogenetic studies. Our recent experiments using mixtures of DNA samples in order to imitate mosaicism, followed by densitometry on the resulting allelic bands after PCR, show that there is a good correlation between band intensity and percentage of mosaicism. Comparison of the two quantities shows a consistency in the results which permits us to estimate the percentage of mosaicism using densitometry of the bands and standard correction of the result. In conclusion, our method can be very useful for studying cases of mosaic trisomies of meiotic origin in specific tissues where karyotyping might not be possible. In addition, the PCR method is much faster that the cytogenetic analysis. By this method it should also be possible to study mosaic trisomies of mitotic origin when the percentage of mosaicism is high.
- OSTI ID:
- 133734
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0465
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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