Genetics Intelligent Design

One in 2000 people may have two copies of a chromosome from one parent

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And none from the other. And they may show no abnormalities:

To date, most cases of uniparental disomy—having two copies of a chromosome from either mom or dad, rather than one from each—have been identified in the context of disease, but a new study from researchers at the direct-to-consumer genetics company 23andMe finds that this phenomenon is more common than previously realized and exists in many healthy individuals. The study, published yesterday (October 10) in the American Journal of Human Genetics, suggests that uniparental disomy (UPD) occurs in about one in every 2,000 people.

Jef Akst, “Unbalanced Chromosomal Inheritance More Common than Thought” at The Scientist

Apparently, it’s twice as common as once thought. It’s amazing how much the human genome has learned in recent years. 😉

See also: Have we been wrong about DNA bonds all these years?

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5 Replies to “One in 2000 people may have two copies of a chromosome from one parent

  1. 1
    Ed George says:

    And none from the other. And they may show no abnormalities:

    Why would they be expected to show any abnormalities?

  2. 2
    Mimus says:

    Ed George,
    There are a handful of genes in the human genome that have parent-of-origin effects in expression. In some cases, only the paternal copy is expressed, so having two maternal copies is as good as a deletion. Interestingly, these effects can only really be explained by individual-level selection (where the interests of mothers and fathers differ in evolutionary terms).

    But there are only a few disorders caused by these genes, so shouldn’t expect most uniparental disomy cases to be deleterious. This results just comes down to the fact you find more of a phenomenon when you have the technology to detect it.

  3. 3
    Ed George says:

    Thanks Mimus. I was aware of things like trisomy and sex related things like haemophilia and colour blindness, but I wasn’t aware that there were conditions that were related to a fetus getting both chromosomes from one parent.

  4. 4
    EDTA says:

    A couple of problems are caused by getting just one chromosome wrong:
    https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=90&ContentID=P02159

  5. 5
    Ed George says:

    EDTA, thanks. This sounds similar to what can happen with incest, where recessive genes can become expressed.

    This is interesting stuff. I have never heard about this before.

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