Monday 19 January 2015

Inbreeding

I have recently got into watching Game of Thrones so I thought there is no topic more appropriate than the wonders of inbreeding. Many people have heard the rumours that having offspring with blood relatives results in children with physical and mental defects, however there has never really been an explanation as to why that is the case. This article will outline the genetic reasoning behind these abnormalities (despite my hatred of studying genetics).




What is inbreeding?
Inbreeding is defined as the mating or breeding of individuals with a close genetic relationship (brother and sister, father and daughter etc). The problem lies with recessive genes. Whilst we all carry either beneficial or neutral genes, we also possess a selection of deleterious, recessive genes that have the potential to negatively impact our health. These recessive genes generally remain inactive as they are the recessive form of the gene and are never expressed in the presence of the harmless, dominant gene. If the recessive gene is not expressed, an individual will be a carrier of a potentially harmful genetic condition rather than a sufferer. Family members have a higher probability of carrying the same recessive, gene leading to its expression. The homozygosity of intrafamily-produced offspring means that they are at increased risk of being affected by recessive or deleterious traits which in turn leads to a decreased biological fitness.

Here is an example of a recessive gene being passed from parents to offspring. The second generation are only carrying the gene without experiencing any decrease in biological fitness. When the brother and sister snake then have a baby, the 3rd generation was passed matching recessive alleles which expresses the maladaptive gene. That red snake probably has an extra head, spinal bifida, cystic fibrosis or perhaps it is just red despite being from a black family.


The probability and severity of developing such disorders is increased the closer the genetic relationship between the biological parents (i.e. a brother and sister’s offspring has a much higher likelihood of congenital birth defects than a girl and her mother’s brother). This is because the closer the biological relationship, there is an increase of pairings of deleterious alleles which produce disorders. As the predominance of these deleterious, recessive alleles are rare in populations, it is highly unlikely that two unrelated parents will carry the same allele but close relatives share a large number of alleles, which increases the chance of one becoming dominant and therefore detrimental.

Is it exclusive to humans?
In the animal kingdom, inbreeding is more commonplace. Firstly there isn’t as much stigma to mating with a cousin when you are an elephant seal but also because often when a population becomes isolated, they do not have an option to breed with non-family. Animals also experience the negative impact of maladaptive homozygosity such is the example of the Isle Royale Wolves. As the population of wolves is isolated on an island, malformations are “stuck” in the population. In the recently published, annual report of the wolves, it was noted that the predation rate on the island has decreased significantly. It has been suggested that this is a result of ongoing inbreeding of the pack (Isle Royale is currently the longest running study of predator/prey interaction due to the observation of wolves and moose that crossed onto the island via an ice bridge. The study is currently in its 57th year). Abnormalities such as too many bones in the vertebral column and vulnerable immune systems have been noted and are showing signs of spreading and unfortunately, there is no opportunity for genetic relief as “foreign” wolves cannot be naturally introduced to the island.

This is a comparison of a normal wolf vertebrae compared to one taken from an Isle Royale wolf. Note the slight size difference as well as the obvious deformity.


Benefits of Inbreeding

Of course, eliminating genetic diversity can be beneficial. Inbreeding produces uniform and predictable offspring. This is commonly seen in the pure-breeding of animals to ensure desirable traits are maintained and when an undesirable trait appears, selective mating is used to eliminate that particular mutation. Also, the primary issue with inbreeding is the doubling up of deleterious recessive alleles. On the contrary, inbreeding also doubles up advantageous “good genes”, keeping them within a population. 

Monday 5 January 2015

Blood alcohol, what is your limit?


As you should all know, the legal limit for drinking alcohol and driving was lowered in Scotland on December 5th.  From now on, a blood alcohol concentration of 50mg/100mls blood is considered over the legal limit (down from 80mg/100mls). Personally it made me realise that I did not fully understand the initial drink drive limit. Before it was commonly accepted to have a single pint or glass of wine and still be perfectly acceptable to drive however this 30mg reduction seems to have made all the difference. This article I will look at how your body processes alcohol and at what stage it becomes legal and safe to operate a vehicle.

An example of when it is not ok to drive soon.


Alcohol in your blood

The more I have looked into this topic the more complicated I have found it. Primarily due to the fact that there are many determining factors from the strength and volume of drink, to the size and weight of the drinker. Not to mention this persons particular tolerance to alcohol. Also a lot of research was conducted in America where they measure both blood alcohol content in different units but also have different serving volumes of alcohol. To put it simply, blood alcohol content is the blood ethanol concentration. In the case of Britain, it is expressed in mg/ml.
Without properly calibrated equipment, it is very difficult to provide an accurate reading of blood alcohol content. There are several “calculators” available online that give you an estimation so I tested to see what effect a small amount of alcohol can have on your body. The test provided the following result: As a 75kg male, if I consumed 2 pints and was tested one hour afterwards, my blood alcohol content would be 57mg/100ml, over the legal limit. Not only that, it would take in excess of 4 hours for that alcohol to completely leave my system. Obviously these online calculators must be taken with a pinch of salt but it shows how little alcohol it takes to be over the limit and also how long it remains in your system for.

Alcohol absorption, distribution and elimination. It takes longer than you might think.

Another major cause for concern is people driving after a drinking the night before. Many of us assume that after a few hours’ sleep, all the alcohol in our system will be gone. This however is not the case. Alcohol is absorbed through the GI tract: rapidly in the small and large intestine (due to its large surface area) but also slowly within the stomach itself. Post-absorption, alcohol is passed via the hepatic portal vein to the liver before entering the bloodstream. Alcohol has a high affinity for water and is therefore transported in the blood throughout the body. Once absorption is complete, an equilibrium occurs such that the blood at all points within the body contains approximately the same concentration of alcohol.
From the bloodstream, alcohol must be removed by a combination of metabolism, excretion and evaporation. The predominance of alcohol removal is via liver metabolism. Alcohol dehydrogenase converts ethanol into acetaldehyde (If you remember a previous blog on hangovers you will be familiar with this and if you haven’t read it, read it now! http://www.stannagescience.blogspot.co.uk/2014/08/the-hangover.html). A healthy individual will metabolise alcohol at a fairly consistent rate. Several factors however will influence the rate in which alcohol is metabolised. Rate of elimination tends to be higher when blood alcohol concentration is very high (potentially as the body considers the levels of toxins as a serious threat and invests more metabolic energy to remove it). Also, chronic alcoholics may actually be able to metabolise alcohol significantly quicker due to increased tolerance. The body’s ability to metabolise alcohol quickly diminishes with age, meaning older people take longer to process the same amount of alcohol as a younger person.
In terms of how long alcohol stays in your bloodstream, it is very difficult to predict. As stated before, there are many contributing factors to the speed of alcohol metabolism and as a result, will vary from person to person how quickly it is eliminated. If you consider a normal, healthy liver. It will metabolise alcohol at a constant rate – approximately 1 gram per hour for every 10kg of bodyweight. This is around 1 unit per hour post-consumption.

It is important to note that there is nothing that you can do to speed up the metabolism and therefore the elimination of alcohol in your system. Having a cup of coffee or a cold shower may make you feel more sober and alert but it has in no way reduced your blood alcohol concentration. When it comes to driving, it really is not worth the risk.

Even drinking plenty of water does not reduce the blood alcohol concentration, even if it does make you feel better.


I found a plethora of fairly average blood alcohol concentration calculators but I found this is one considers more factors and provides more information so I would recommend having a play on this: http://www.alcoholhelpcenter.net/program/BAC_Standalone.aspx

(units are in g/100ml so multiply by 100 to get the UK standard measurement of mg/100ml)