Some learning points about Mendel and Mendelian Genetics

1. Gregor Mendels Place in the History of Science

Mendel is deservedly well known but it is seldom mentioned that the originality of his work marks him as one of a handful of people that can be characterized as a genius. There are lots of definitions of genius but one that we might consider here is that a genius is a person who asks questions that do not occur to other people. Einstein, for example, asked what the world would look like if he was riding on a beam of light. This is the question that ultimately led him to his notions of relativity, but it is not the kind of musing that would occur to most people, not even most physicists (maybe thats why Jonathan Swift said When a true genius appears in the world, you may know him by this sign, that the dunces are all in confederacy against him.). Mendel is set apart as someone special because he asked a question about heredity even though everyone thought they knew the answer to a certainty. Asking a question about the validity of the blending theory was like asking if you needed to breathe to live. Nonetheless, he asked the question and deserves to be remembered as a member of a very small group of original scientific thinkers. He also deserves this accolade for a second contribution. Independently of Darwin, he introduced the idea probability into science (rememberbefore Darwin and Mendel the model for science was provided by Newtonian mechanics which worked out the movements of the planets to a high degree of precision and certainty). Mendel worked out all of his deductions, not with the easy Punnett Squares like we have done, but with probabilistic algebraic statements and he was the first to have done this.

2. The disregard of Mendel and independent rediscovery.

Scientists were aware of Mendels work at the time of publication (it is often said that he published in an obscure and small journal that few people read but this is patently false and one of those statements that becomes true because of repetition). They simply were unable to understand the significance of his findings. Since his work didnt have any apparent connection to the developing life sciences it lapsed into obscurity (recall that Darwin first published the Origin less than a decade before Mendel published). Mendels findings were rediscovered less than half a century later by two scientists working independently of each other. The scenario is reminiscent of Darwin and Wallace independently coming up with the idea of natural selection as a driving force of evolution. These two events, among others like it in the history of science, might lead us to conclude that science progresses not only by the insight of people with extraordinary vision but that culture here makes its impress as well. The zeitgeist propels scientists to work in certain topics and even to frame their thinking about their data. Is it even remotely possible that Darwin and Wallace came up with the idea of evolution by means of natural selection ab nihilo? This was an era of nascent capitalism and a time when peoples lives were being transformed by the initial impact of the industrial revolution (think about Darwin making that trip from London to Dover in about 6 or 7 hours by train in 1850 versus taking four or five days to make the same trip by horse or carriage only a decade before). Notions of transformation and progress were becoming embedded in the culture and this is reflected in the work of the scientists at the time.

3. Punnett Squares, medical genetics and careers

Lets do a couple of simple Punnett Squares with real disorders that shorten peoples lives. By the way, for those of you who might be searching for a career choice that will have some meaning and where there actually are jobs you might think about medical ethics and genetic counseling.

Lets first do a Punnett Square with a dreadful genetic disorder known as Tay-Sachs Disease (look it up in Wikipedia). This is an autosomal recessive disease which means that a person can carry a gene for it but will themselves not be affected (hence the term carrier). However, if they marry and have children with a person who is also a carrier then there is a chance that a child can inherit a fatal disease. Mother and Father are both carriers. Ergo, their gametes (sex cells) will carry the normal gene (HA) or the abnormal gene (ha) and since gametes are created by the reduction division of meiosis only one or the other of these genes will be present in any given gamete.

Carrier Mothers gametes: Carrier Fathers gametes:

Hex A or hex a Hex A or hex a

Mother:

Hex A

hex a

________________________________

Hex A

Hex A, Hex A

Hex A, hex a

Father: hex a Hex A, hex a hex a, hex a

So you can see that three children have normal phenotypes, but two of those three are carriers. One child has the disease. This is the probability but it is worth noting that every conception is an independent event so these parents could have children who are all born Hex A, Hex A or their children could all be carriers or all could be born with the disease.

One last Punnett Square with Haemophilia (go back to Wikipedia), another fatal genetic disorder, which is a sex linked recessive trait and is carried on the X chromosome. Since females have two X chromosomes a woman can carry the trait but not display it in her phenotype. A male, however, has only one X chromosome and the corresponding Y chromosome of the male does not have a locus to carry a gene to counteract the phenotypic effects of the gene on the X.

Carrier Mothers gametes Normal Fathers Gametes

Xnormal or Xabnormal Xnormal orY

Mother:

Xnormal

Xabnormal

___________________________________

Xnormal

XX Normal female

XX Carrier female

Father: Y XY Normal male Xabnormal, Y Affected male

The probability is that one-half of their sons will be affected with this disorder and one half of their daughters will be carriers but not affected.