Think about the following scenario: A child is diagnosed as having long QT syndrome, an autosomal dominant disease. However, neither of his parents is affected. This may be due to a new mutation in the embryo, which would explain the son having the disease with normal parents. Next, this de novo mutation could be inherited to off-spring of the child? or not?

And there are additional questions. Why do so many genetic tests performed by blood samples represent all germline mutations? Except for cell free DNA, blood cells are not germline cells. Therefore, the mutation found in the blood sample test may be a huge somatic mutation (except blood cancer). For example, for mutations that occurred early in embryo development, many cells may have been affected, and I think this might be in the form of somatic mosaicism. Doesn't it mean that it's a germline mutation if it's found at 50% or 100%?

I asked you a little more, is there only a family test (segregation test) that checks to see if it's a germline mutation?

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And you say, in other words, de novo mutations can occur in postzygotic embryos or by germline mutations in parents.

Then I want to go further and conclude. In this case, an autosomal dominant disorder was detected as a heterozygote on a blood test. If it occurs in the embryo after conjugation, two possibilities are conceivable.

It could happens a heterozygous allele in the whole cell of a postzygotic embryo, Or can occur in one of the cells as a homozygous mutation when there are only two cells in the early embryo. In the latter case, autosomal dominant mutation would be lethal, so the child is likely not lived.

So in conclusion, if I thought that the whole cell of the child had the heterozygous mutation of the long QT syndrome, it was probably the result of the parent's germline mutation.

Am I thinkin right?

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    – tyersome
    Feb 27, 2020 at 17:17

1 Answer 1


De novo mutations can be inherited if they occur in the germline cells, those responsible for making the sperm or the egg. If you have a de novo mutation in a blood cell or a skin cell, this doesn't pass on to the next generation. But when you test the blood for mutations, it can also mean that the same mutation is present in the germline! However, if the parents are not sufferers of the dominant disease, it means this mutation is not present in their somatic (non-germline) cells. It's likely that the mutation occurred de novo in either the parent's germline during their lifetime (during the production of their sex cells in adulthood).

If your parent has a mutation in their germline, and it is passed on to you, the zygote is formed from both your parents (half of your alleles are from the mutated parent) and this zygote creates ALL of you, including your blood cells and your skin cells. This is why we can test your blood to guess what must have been the case in your germline. Of course, you may have accumulated mutations independently in the germline in the meantime, or accumulated mutations independently in the blood cells! So it's not completely the case that testing blood will tell you about the state of the germline. But you must understand that ALL of you is created from a single cell, the zygote, so at this point there is a 'bottleneck' that forces all somatic and germline cells to share the same genetic makeup.

Also, please consider that humans are diploid, i.e. have one copy from the mother and one copy from the father. And that these recombine and only one copy goes into the sex cell. This may help you think about your problem.

I trust this will help you better understand your questions.


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