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Related Concept Videos

Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

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Generation of Maternal Mutants Using zpc:cas9 Knock-in Zebrafish
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PGD for germline mosaicism.

Gheona Altarescu1, Rachel Beeri, Talia Eldar-Geva

  • 1Medical Genetics Institute, 'ZOHAR' PGD Lab, and IVF Unit Shaare Zedek Medical Center, Jerusalem, Israel. gheona@szmc.org.il

Reproductive Biomedicine Online
|August 14, 2012
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Summary

This study developed a preimplantation genetic diagnosis (PGD) assay for germline mosaicism. Sperm analysis confirmed allele linkage, enabling successful IVF/PGD for families with severe myoclonic epilepsy and tuberous sclerosis.

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Area of Science:

  • Reproductive genetics
  • Human genetics
  • Molecular diagnostics

Background:

  • Germline mosaicism presents challenges in preimplantation genetic diagnosis (PGD).
  • Accurate allele discrimination is crucial for PGD in families with mosaicism.
  • Genetic disorders like severe myoclonic epilepsy and tuberous sclerosis require precise diagnostic tools.

Purpose of the Study:

  • To develop and implement a PGD assay for distinguishing wild-type and mutant alleles in two families with germline mosaicism.
  • To investigate the utility of sperm analysis in verifying allele linkage for PGD.

Main Methods:

  • Development of a PGD assay incorporating microsatellite markers and mutation analysis.
  • Haplotype construction using flanking markers for SCNA1A and TSC2 genes.
  • Single sperm analysis using multiplex assays to confirm paternal transmission of the TSC2 mutation.

Main Results:

  • The PGD assay successfully identified the maternal deletion in the affected child of Family 1.
  • In Family 2, affected children and one healthy child shared the same paternal allele.
  • Single sperm analysis confirmed the mutant paternal allele and its linkage to genetic markers in Family 2.

Conclusions:

  • Germline mosaicism complicates allele assignment in PGD haplotype construction.
  • Sperm analysis is a valuable method for confirming allelic linkage in PGD.
  • Successful IVF/PGD resulted in healthy births for both families, demonstrating the assay's efficacy.