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Published on: February 21, 2015
Identification of the mechanism underlying a human chimera by SNP array analysis
So Youn Shin1, Han-Wook Yoo, Beom Hee Lee
1Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
American Journal of Medical Genetics. Part A
|July 24, 2012
Summary
Human chimerism, a rare condition, can now be identified using DNA analysis. This study reveals a true hermaphrodite case caused by parthenogenetic activation, advancing our understanding of developmental disorders.
Area of Science:
- Genetics
- Developmental Biology
- Reproductive Medicine
Background:
- Human chimerism, the presence of cells from distinct zygotes, is exceptionally rare.
- Two primary mechanisms, oocyte-polar body fusion and parthenogenetic activation, are hypothesized causes.
- DNA polymorphism analysis is crucial for distinguishing these mechanisms.
Observation:
- A patient presenting as a true hermaphrodite was investigated.
- Single nucleotide polymorphism (SNP) array analysis was employed for detailed genetic examination.
- The patient exhibited chimerism with a specific underlying genetic cause.
Findings:
- The study identified dispermic fertilization of two identical gametes from parthenogenetic activation as the mechanism.
- Whole chromosome analysis confirmed this genetic origin.
- This case provides concrete evidence for a specific type of human chimerism.
Implications:
- SNP array analysis can aid in diagnosing disorders of sex development (DSD).
- Increased identification of human chimeras will enhance understanding of their development.
- This research contributes to the broader field of human genetics and reproductive anomalies.
