Genetic screening with exfoliated cervicovaginal cells collected by a noninvasive lavage technique performed during routine gynecologic cancer screening

Robert D. Burk, Carol Spitzer

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

We have investigated and established the feasibility of the use of exfoliated cervicovaginal cells as an abundant source of genetic material. We routinely use this material for the detection by molecular hybridization of human papillomavirus infection of the cervix. We have analyzed deoxyribonucleic acid isolated from cervicovaginal cells by Southern blot hybridization to detect a common restriction fragment length polymorphism on chromosome 13. We suggest that in the near future most, if not all, major human genetic disease loci will be cloned and their mutations will be identified. With this knowledge and innovative methods, such as the polymerase chain reaction, it will be possible to distinguish normal individuals who harbor a variety of recessive genetic mutations that may place them at risk to produce offspring with serious genetic diseases. We propose that both genetic and cancer screening can be performed during the same office visit. Such testing offers the advantage of identification of women at risk for genetic disease with a noninvasive procedure before or concurrent with childbearing. Easily accessible genetic material extracted from exfoliated cervicovaginal cells can also be used for population genetic studies.

Original languageEnglish (US)
Pages (from-to)652-654
Number of pages3
JournalAmerican Journal of Obstetrics and Gynecology
Volume162
Issue number3
DOIs
StatePublished - 1990

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Inborn Genetic Diseases
Therapeutic Irrigation
Genetic Testing
Early Detection of Cancer
Office Visits
Chromosomes, Human, Pair 13
Mutation
Genetic Loci
Papillomavirus Infections
Medical Genetics
Population Genetics
Southern Blotting
Cervix Uteri
Restriction Fragment Length Polymorphisms
Genes
Polymerase Chain Reaction
DNA

Keywords

  • Cervicovaginal cells
  • genetic screening
  • molecular hybridization

ASJC Scopus subject areas

  • Medicine(all)
  • Obstetrics and Gynecology

Cite this

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abstract = "We have investigated and established the feasibility of the use of exfoliated cervicovaginal cells as an abundant source of genetic material. We routinely use this material for the detection by molecular hybridization of human papillomavirus infection of the cervix. We have analyzed deoxyribonucleic acid isolated from cervicovaginal cells by Southern blot hybridization to detect a common restriction fragment length polymorphism on chromosome 13. We suggest that in the near future most, if not all, major human genetic disease loci will be cloned and their mutations will be identified. With this knowledge and innovative methods, such as the polymerase chain reaction, it will be possible to distinguish normal individuals who harbor a variety of recessive genetic mutations that may place them at risk to produce offspring with serious genetic diseases. We propose that both genetic and cancer screening can be performed during the same office visit. Such testing offers the advantage of identification of women at risk for genetic disease with a noninvasive procedure before or concurrent with childbearing. Easily accessible genetic material extracted from exfoliated cervicovaginal cells can also be used for population genetic studies.",
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N2 - We have investigated and established the feasibility of the use of exfoliated cervicovaginal cells as an abundant source of genetic material. We routinely use this material for the detection by molecular hybridization of human papillomavirus infection of the cervix. We have analyzed deoxyribonucleic acid isolated from cervicovaginal cells by Southern blot hybridization to detect a common restriction fragment length polymorphism on chromosome 13. We suggest that in the near future most, if not all, major human genetic disease loci will be cloned and their mutations will be identified. With this knowledge and innovative methods, such as the polymerase chain reaction, it will be possible to distinguish normal individuals who harbor a variety of recessive genetic mutations that may place them at risk to produce offspring with serious genetic diseases. We propose that both genetic and cancer screening can be performed during the same office visit. Such testing offers the advantage of identification of women at risk for genetic disease with a noninvasive procedure before or concurrent with childbearing. Easily accessible genetic material extracted from exfoliated cervicovaginal cells can also be used for population genetic studies.

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