Laws of population genetics predict that, on a purely theoretical ground, such a high number of genes should translate into an extremely elevated frequency
of unaffected carriers of mutations.
Not exact matches
Antonis C. Antoniou, Ph.D.,
of the University
of Cambridge, England, and colleagues included 6,036 BRCA1 and 3,820 BRCA2 female
carriers (5,046
unaffected and 4,810 with breast or ovarian cancer or both at study entry) in the analysis.
They predicted that
unaffected mothers are «
carriers»
of devastating mutations that are preferentially transmitted to children affected with severe ASD.
Interestingly, the
carrier - but -
unaffected cases exhibit higher innate expression
of wildtype PRPF31, likely a compensatory mechanism that prevents disease.
Risk - reducing surgery increases survival in BRCA1 / 2 mutation
carriers unaffected at time
of family referral.
With this type
of disease, there are no
unaffected «
carrier» cats — all cats with an abnormal gene will be clinically affected.