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Related Experiment Videos

[Diagnosing achondroplasia by single cell nested-PCR].

Chang-gao Zhong1, Lu-yun Li, Chang-fu Lu

  • 1Institute of Reproduction and Stem Cell Engineering, Reproductive and Genetic Hospital of CITIC-XIANGYA: Central South University, Changsha, Hunan, 410078 PR China.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|June 5, 2003
PubMed
Summary

Diagnosing achondroplasia (ACH) at the single cell level using nested-PCR is reliable for preimplantation genetic diagnosis. This method offers a stable approach for genetic screening of embryos.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Reproductive Medicine

Context:

  • Achondroplasia (ACH) is a common genetic disorder affecting bone growth.
  • Accurate genetic diagnosis at the single cell level is crucial for preimplantation genetic diagnosis (PGD).
  • The fibroblast growth factor receptor 3 (FGFR3) gene harbors common mutations causing ACH.

Purpose:

  • To evaluate the reliability of diagnosing achondroplasia (ACH) at the single cell level.
  • To establish a foundation for the application of preimplantation genetic diagnosis (PGD) for ACH.
  • To assess the efficacy of nested-PCR and restriction fragment length polymorphism (RFLP) analysis for single-cell genetic testing.

Summary:

  • Single lymphocytes and blastomeres were used for nested-PCR amplification of the G380R mutation region in the FGFR3 gene.

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  • PCR products were digested with Bfm I and analyzed using polyacrylamide gel electrophoresis (PAGE).
  • Single lymphocyte PCR achieved a 90.4% amplification success rate, 8.2% allele dropout rate, and 91.8% correct diagnosis rate. Single blastomere amplification success was 75.4%.

    • Impact:

    • The study demonstrates that single-cell nested-PCR is a stable and reliable method for diagnosing achondroplasia.
    • This technique provides a viable option for preimplantation genetic diagnosis of ACH, enabling informed reproductive choices.
    • The findings contribute to the advancement of single-cell genetic analysis in reproductive health and genetic disease screening.