Human inbreeding: examples

In a genetics class I attended recently, Professor Scott Weitze recommended a few books including The Family That Could Not Sleep by D.T. Max and Mutants: On genetic Variety and the Human Body by Armand Marie Leroi. I thought I should mention both these books because both deal with mutations that probably arose due to human inbreeding.

The Family… lists many prion related symptoms which seem interesting from the perspective of inbreeding. The Italian family referred to in the title is haunted by progressive insomnia that kills the victims within months due to sleep deprivation. Although this condition is due to prions, the fact that this condition is inherited makes me believe that some inbreeding may be involved. A mutation that promotes the incorrect folding of the protein which creates the prions may have arisen in an ancestor in the family. Due to consanguineous marriages the incidence of the mutation may have increased to the current status within the family. Mutants, too, is a wonderful book that links myth, reported cases, and medical cases of human deformities that have lingered since ancient ages.

While The Family…. consists of many prion related diseases, Mutants starts with the description of the mythical Monster of Ravenna that remarkably resembles patients with Roberts’s Syndrome. Then leading the readers from the battle of preformationists and epigeneticists the book delves into the modern day developmental biology to explain various irregularities during the development of an embryo that leads to deformities. While some developmental irregularities could be due to the environment and chemical agents, others such as ectrodacytly (previously also known as Cleppie Bells or lobster claws) could be due to inbreeding because they seem to be in the individuals that seem to have shared ancestors. Cleppie Bells in a few Scots family, Lobster claws in a British family, Ostrich foot in an African family, and the aleijadinhos of Brazil are some of the examples of ectrodacytly listed by the author. All these deformities are in very small populations sharing a common ancestor. I thought this would probably be interesting especially to those who refute the negative implications of consanguineous marriage.

I would not want to summarize the books because the authors have spent a lot of time and effort to write them. I would suggest though that readers interested in deciphering more about the implications of human inbreeding read both of these books.

Human inbreeding: the logic behind it

Earlier in this blog I have written twice about human inbreeding. I never thought that my writing would attract so much attention. The first article, a compilation of a few readily available scientific papers and possibly a few articles in Google, was my effortless entry to the blogosphere. The attention I received inspired me to delve into this issue even more which brought about the second article, which comprised of considerable archeological excavation of scientific literature. I appreciate all the comments that readers have provided. I can only hope, whether you agree or disagree with me, that my articles have furthered your understanding of human inbreeding.

Many of the readers who cared to express their disagreement with me mentioned that even though the entire royals of UK, the Japanese Monarchs, and the ancient Egyptian royals are products of inbreeding, they do not show any aberrations. In case of British Royals, hemophilia may not have been due to inbreeding as another author pointed out. Yet another reader giving her own example said that despite being inbred, her brother and she are fine “just like everybody else.” I completely agree with these arguments and arguments like these that just because one is descended from a consanguineous marriage, one may not show any aberrations. However, one should always consider that there may be recessive lethal mutations in us and the probability of such mutations being passed on is highly increased in consanguineous marriage.

For example, assume there is a gene P that is vital for life. In any population, because of mutations there can be various versions of gene P. Let us assume that there are three functional versions P, P’, and P.” The fourth version p let us assume is deleterious and recessive. All four alleles are distributed equally. From this description, individuals with genotype PP, PP’, PP”, P’P” are fully functional whereas Pp, P’p, P”p are carriers and pp individuals show symptoms. In this population, the allele frequency for p is 1/4 and the chances of one being pp is 1/10. This means that the probability of a person showing the mutation is 10%. Now let us assume that in this population there is a family in which a son (or a daughter) has the recessive deleterious allele p such that his genotype is –p (it does not matter what his other allele is. Thus, the functional alleles are indicated by a dash). Assuming his wife had two of the functional alleles –, the chances of his children inheriting the allele p is 1/2 (in the population the risk was 1/4) and the chances of pp individuals are 0. Let us assume he had for children with the following genotype:–, -p, –, -p. If the kids with –p genotype marry with people of — genotype, then the chances of
-p individuals in next generation is again 1/4 and the same for pp 0 but if they get married together the chances of –p is 1/2 and now the probability of pp individuals is 1/4 which is 25% that is 15% higher than the general population. This is where inbreeding matters.

Now having that said, there are a few things that we need to consider before discussing the effects of inbreeding. First, only the mutations that can be seriously detrimental can be easily reported and measured. If one is a carrier (-p genotype) it becomes harder to characterize them. Second, if the mutations are in the genes that are important but not life threatening, the individuals carrying the mutations may appear normal. These mutations include genes responsible for eye colors and hair colors. Third, some fetuses carrying detrimental mutations can result in miscarriages and stillborn babies and those that live may only last for a few years. We only know about the mutations in famous people and those in general public may not be known. Therefore, although the royals may be inbred yet okay, we cannot assume that inbreeding is okay.

Who killed Madan Bhandari?