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SV40-transformed fragile (X) amniocytes
E C Jenkins1, S E Brooks, S L Stark-Houck
1Department of Cytogenetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314.
American Journal of Medical Genetics
|February 1, 1991
Summary
SV-40 transformation of fragile X (fra(X)) amniocytes created cell lines with prolonged reproductive potential. These transformed cells can serve as reliable positive controls for fragile X prenatal diagnostic studies.
Area of Science:
- Genetics
- Cell Biology
- Developmental Biology
Background:
- Fragile X syndrome is a genetic disorder.
- Fragile X (fra(X)) amniocytes are used in research.
- SV-40 transformation is a method to immortalize cells.
Purpose of the Study:
- To report the SV-40 transformation of fragile X (fra(X)) amniocytes.
- To assess the stability and longevity of transformed fra(X) amniocyte cell lines.
- To evaluate the utility of these transformed cells as positive controls for diagnostic studies.
Main Methods:
- SV-40 transformation of female and male fra(X) amniocytes.
- Karyotypic analysis to detect the fra(X) marker at different passages.
- Monitoring cell generation and reproductive potential.
Main Results:
- Transformed fra(X) female amniocytes retained the fra(X) marker for at least 42 cell generations.
- Transformed fra(X) male amniocytes retained the fra(X) marker for at least 29 cell generations.
- Karyotypic evolution was observed in later generations, potentially reducing marker detectability.
Conclusions:
- Transformed fra(X) amniocyte cell lines exhibit prolonged reproductive potential.
- Cryopreservation of early passage transformed cells ensures a reliable supply of positive controls.
- These cell lines can enhance quality control for fragile X prenatal diagnostic systems.