10E3 Biology: Dr. Polzer Maximilian Frentz 18.02.

2018

Genetic Disorders Essay- The Pedigree Collapse

(Close Ancestry)

Genetic diseases are caused by irregularities in the genome. When there is a change in the
DNA sequence, genetic disorders tend to occur. These irregularities happen due to many
factors. Such include but are not limited to, mutations in one (monogenic) or multiple genes
(multifactorial), environmental factors or even damage to the chromosomes. All of these
disorders have a genetic component. Some disorders are inherited but some are acquired at
birth. Genetic diseases typically include the inheritance of a gene that might not have affected
the previous generations but was a trigger for a disorder. This kind of gene would be passed
down until eventually a child will be born with disease. In another case, the mutation might be
new and could have occurred in the egg or sperm that created the child. Most of the inherited
diseases are the product of genes that were passed on and acted together or/and with the
environment to produce a mutation.

Genetic mutations can be the result of a Pedigree Collapse (of close ancestry) caused by the
reproduction of two related individuals (incest). The term was invented by Robert C.
Gunderson which is also recognised by the German term Ahnenschwund, meaning “loss of
lineage”. This cycle was most prominent in the Medieval-European monarchies. The Houses
of Habsburg and Bourbon are well known for incest and genetic disorders caused by
inbreeding. The average person today has approximately a billion ancestors if one traces back
30 generations. The Pedigree Collapse occurs when multiple places in that family tree are
occupied by one single individual. When close (only a few generations apart) ancestors are
shared, birth defects or hereditary diseases are noticeable. The most common example is the
case in which two first cousins have an offspring. The two parents share common
grandparents which can result in problems.

There are some cultures that encourage cousins or other relatives

to marry with the ideology that it would keep the bloodline pure.
In some cases, cousins are required to marry due to limited
partners. Generally, such intermarriage takes place in small areas
with a limited population which weakens the entire gene pool
there. Marrying within a community is call endogamy. Endogamy
breeds homogeneity. It creates kinship which gives a sense of
togetherness in one’s community (or dynasty in feudal Europe).
On the other hand, the House of Habsburg shows quite clearly
why the Pedigree Collapse occurs. Alfonso XII of Spain (House
of Bourbon), Ferdinand I of Austria (House of Habsburg) and
Charles II (House of Habsburg), the last King of Spain are all

Charles II, Last Habsburg King of Spain

10E3 Biology: Dr. Polzer Maximilian Frentz 18.02.2018

examples of the dangers of inbreeding. Three of the seven marriages in Charles II’s
immediate ancestry (parents, grandparents) were uncle-niece. His grandparents were also
closely related, which lead to complications.

What genetically happens to an inbred child is a different contingency. It has been proven that
inbreeding does not directly lead to genetic irregularities but immensely increases the chance.
In a normal person, if one parent has a “bad” gene, the second parents “good” will
presumably counter the high chance of disorder and most likely, a healthy offspring will be
born. Each allele exists in duplicate and only when both are flawed, the defect becomes
apparent. However, in an inbred child, many of the maternal and paternal genes will be the
same which leads to the risk of any potential genetic disease rising exponentially. In the cases
mentioned previously, the parents of the child shared too many genes in common which
resulted in severe irregularities in the genome.

In conclusion, the Pedigree Collapse ensues when there is a lack of diversity in the genome.
To be immune to disorders that are inherited, it is crucial that the parents do not share the
same genes. All sorts of inherited genetic disorders are possible but as long as the parents are
not too closely related, the chance of an illness being incorporated to the child at birth remains
quite low.
10E3 Biology: Dr. Polzer Maximilian Frentz 18.02.2018

Sources:

1) https://en.wikipedia.org/wiki/Pedigree_collapse
2) http://genetics.thetech.org/ask-a-geneticist/genetics-inbreeding
3) https://www.genome.gov/19016930/faq-about-genetic-disorders/
4) http://www.bbc.co.uk/schools/gcsebitesize/science/21c/genes/genetic_diseasesrev1.sht
ml
5) https://www.wikitree.com/genealogy/HABSBURG