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Such a maternal effect could result in a large enough proportion of somatic cells having two mutant copies of the Notch gene to preclude viability in heterozygotes.
People who inherit two mutant copies of the relevant gene are guaranteed to develop the disease, while people with only one copy will not.
The affected siblings had apparently inherited two mutant copies of an unknown gene, one from their mother and one from their father.
In the new study, Shatz's team employed a different genetically engineered mouse strain whose genome contained mutant copies of two separate human genes.
They also embedded in them mutant copies of a gene called Raf-1.
Genetic interactions between the two mutant copies of a gene were detected by the generation of either Leu+ or Ura+ revertants.
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The findings hint that a single mutant copy of this gene makes people more susceptible.
The presence of one mutant copy of MYBPC3 causes symptoms that usually manifest as heart failure.
If one of the parents participating in IVF treatment had a mutant copy of MYBPC3, 50% of the couple's fertilized embryos would inherit the condition.
Ma et al. investigated a situation in which the father had one mutant copy of MYBPC3 and the mother had only wild-type copies of the gene.
For the study, the scientists recruited a man who carried a single mutant copy of a gene called MYBPC3 which causes HCM.
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