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Twin zygosity testing for medical purposes
D M St Clair1, J B St Clair, C P Swainson
1Medical Research Council, Human Genetics Unit, Edinburgh, Scotland.
American Journal of Medical Genetics
|June 19, 1998
Summary
A twin developed acute renal failure after mushroom poisoning and received a transplant from his brother. DNA testing revealed they were identical twins, despite phenotypic differences, highlighting the importance of zygosity testing in twins.
Area of Science:
- Nephrology
- Toxicology
- Genetics
Background:
- Mushroom poisoning with Cortinarius speciosissimus can cause severe kidney damage, including interstitial nephritis and acute renal failure.
- Renal transplantation is a potential treatment for end-stage renal disease resulting from toxic nephropathies.
- Zygosity determination in twins is crucial for understanding genetic predispositions and potential transplant compatibility.
Observation:
- A patient developed interstitial nephritis and acute renal failure after ingesting Cortinarius speciosissimus mushrooms.
- The patient received a kidney transplant from his twin brother, initially presumed to be dizygotic based on phenotypic differences.
- Phenotypic discordances were noted between the twins despite their close relationship.
Findings:
- Fifteen years post-transplant, DNA fingerprint analysis confirmed the twins were monozygotic (identical).
- This finding highlights significant phenotypic discordances that can exist between monozygotic twins.
- The kidney transplant recipient has successfully discontinued immunosuppression therapy after 9 months, remaining in good health.
Implications:
- Early zygosity determination in like-sexed twins is recommended for medical and other reasons.
- Understanding genetic identity is vital in cases of organ transplantation between twins.
- This case underscores the complexity of phenotypic expression even in genetically identical individuals.