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Category: genetics

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The world as a global structure is composed of an “admixture” of genes. This “admixture” is a population whose genes consist of different inherited blood lines (i.e. European, African, Asian, and Latino).  Among these different descendants, race becomes an issue. Race is viewed throughout the Fullwiley, and Weiss and Long article as a way in distinguishing health disparities, a way of explaining Darwinism, and a crucial statistical relation to biology. Within this particular framework, population genetics and ancestral lineage plays a role in human settlement and development of the human body. This brings me to my article entitles, “The Case against Biological Realism about Race: From Darwin to the Post-Genomic Era.” In this piece, Maglo argues that race functions in contemporary human population genetics, more like a convenient instrumental concept than biological category for picking out sub specific evolutionary kinds.

Evolution is a term coined by Charles Darwin. It is described as the development of different types of organisms by natural selection. In Darwin’s description race was presented in his theory of application; however Maglo describes how race through the idea of “progression” among a species has created a framework of racial hierarchy that is inevitable in the biogenetics world. He explains how science as accumulated findings among minority groups, specifically African Americans has been the blue print to disease. A group of researchers argues that race has an objective biological reality, and is a valid prediction tool of genetic and phenotypic variation within our species, while another group counters that race is biologically meaningless and a weak predictive factor of human genetic and phenotypic variation. Which group of researchers would you agree with? I would personally argue the second group. Race is a social construct. IT was created as a subsection by Herbert Spencer with Social Darwinism in the 19th century. Social Darwinism states that Darwin’s idea is valid, but only through social progress. Well, we don’t need to embark upon the history of what “group” could socially progress, I’m sure the answer is pretty straight forward. With that being said, progression among the human species is a science created through race.

The biological make-up of the human body regardless of skin color, works as a system designed for survival. The genes that a human body is composed of may be different, but their functions unless otherwise defective, all contribute to homeostasis. Without, the critiques of previous evolutionists/scientists (Spencer, etc.) biology would simply only contain a genus/species relation, not a subspecies among human organisms. Even the idea of polygenesis is a key principle of evolution among present day scientists/biologists. Why? Humans are humans, Apes are Apes, and microorganisms are microorganisms. Polygenesis relates to the idea that some humans (i.e. minority groups-African Americans) are a subgroup of individuals that share common characteristics. Who came up with this? The issue is one of high concern among researchers today. These concepts began to group certain people in an array of abnormalities that doesn’t necessarily apply on a biological level. Now, race is clearly a visual aspect that has been created to systematically categorize development, substanciabilty, and tactical relations of disease. Is it right, no; however, is there a solution to the erasing RACE completely in regards to biology? Is this possible?

Maglo, Koffi N. Perspectives on Science 2011, vol.19, no.4. 2011. "The Case against Biological Realism about Race: From Darwin to the Post-Genomic Era

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Published on 7 Comments on Say aloha to Dr. Cann

Rebecca L. Cann is a geneticist who, along with her colleagues, is best known for the Mitochondrial Eve hypothesis (1987). Mitochondrial Eve explains that our human mitochondrial DNA can be linked back to a single African mother from over 200,000 years ago. The Mitochondrial Eve is the ancestor of us all. Since the publication of her paper in 1987, Cann's finding have had a huge impact on human society by contributing evidence for the "(Recent) Out-of-Africa" model.

Rebecca Cann was originally born in Burlington, Iowa. She moved to San Francisco right before starting high school. After graduation, she earned her bachelor's (1972) at the University of California, Berkeley. In the gap between earning her Bachelor's in Genetics and enrolling for graduate school in the Anthropology Department (1972-1974), Cann's interests in human variability and personalized genomes ignited while working as a night-time quality control chemist. Her job exposed her to a lot of scientific journals and articles that made her very inquisitive in how human genotypic variation creates such different phenotypes. Upon learning about restriction enzymes in 1974, Cann decided to enter graduate school to work in molecular anthropology and human evolution. She earned her doctorate in 1982 under the supervision of Dr. Allan Wilson. She worked her Postdoctoral at Howard Hughes Medical Institute until joining the faculty of Univerity of Hawaii's Department of Cell and Molecular Biology in 1986. The following year Cann's "Mitochondrial DNA and human evolution" paper was published Nature (1987).

Currently Cann is a professor at the University of Hawaii.

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Will today it may seem extremely basic knowledge, Mendelian genetics was a complete revolution at the time it was shown the spotlight. Just like Darwin, Mendel's work was advanced for its time, and it took a great deal of time for their ideas to get tractions. However, Mendel was able to discover something that Darwin had struggled his entire life to understand: a mode of inheritance. Before modern microscopes, Mendel was able to comprehend a process that is invisible to the human on based on rigorous and patient methods of observation. He time as a monk was important to the tedious but important work he contributed to science.

diagram of genotypes of pea plants in 3 generations after cross-pollination

Mendel observed the very basic elements of inheritance through the pea plant. Simple dominent or recessive genes were observed through the physical color and shape of the pea as well as the size of the plant. Observations throughout countless generations allowed for Mendel to draw conclusions on the mode of genetic inheritance.

Just like Darwin, Mendel lived a simple life, which allowed him to devout an immense amount of his time to research. He spend 8 tedious years studying how each pea plant came to have the physical characteristics that they did. While the Punnett Square was not a product of Mendel, it is often associated with his legacy because it is the easiest way to demonstrate his genetic theories.

http://www.nature.com/scitable/topicpage/gregor-mendel-and-the-principles-of-inheritance-593

http://anthro.palomar.edu/mendel/mendel_1.htm

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Published on 6 Comments on Gregor Mendel (1822-1884)

Gregor Mendel

Johann Mendel was born to Anton Mendel and Rosine Mendel in what used to be Heinzendorf, Austria on July 22, 1822. His father was a farmer, so Mendel would help out with the chores around the farm. His family was not poor, but sending Mendel to school in Troppau at the age of 11 created strain on their finances. In 1840, he graduated from regular school. After his graduation from secondary school, he entered the Philosophical Institute of the University of Olmütz for two years. To make ends meet he would tutor other students. During this time he often had problems with depression, which resulted in him stopping studies at times. With his problem with depression Mendel was able overcome it and graduate in 1843.

This time of financial struggle is what influenced Mendel to enter the monastery of the Augustinians of Bruenn in 1843. He joined the monastery against his father’s wishes; he wanted him to take over the farm. This is where he received the name of Gregor. The monastery helped give Mendel access to a large library and experiment facilitates, as well as the research of his fellow members. In 1849, Mendel had worked himself to the point of being ill and was sent to teach in Znaim. In 1950, he failed a test to continue teaching and as a result was sent to continue his studies of science in 1851 at the University of Vienna, this was paid for by the monastery. While at the university, Mendel was able to study math and physics under Christian Doppler and botany under Franz Unger, which would later influence his work with pea plants. He graduated in 1853, and shortly after, was given a teaching post at a secondary school that he would keep for over a decade. The time that he was working as a teacher is when he was conducted his pea plant experiments from 1856 to 1863. In 1865, he gave two lectures on his findings from his pea plant experiments, though nothing resulted from them at the time. It is believed that Mendel was not confident in his work and that it he was just presenting already known information. In 1868, Mendel was hindered from doing scientific experiments by his failing eyesight and being elected abbot of the school he had been teaching at for over a decade.

            Mendel died in January 6, 1884. Unfortunately, Mendel did not get much credit for his work till after his death. In the 1900’s, scientists began to look at Mendel’s research and realize that is was not the usual genetic information that was being experimented on and published at the time.

Iltis, H. (1943). Gregor Mendel and his work. The Scientific Monthly, 56: 414-423.

Gregor Johann Mendel. (2014). The Biography.com website. Found at:      http://www.biography.com/people/gregor-mendel-39282.

Photo from: http://en.wikipedia.org/wiki/Gregor_Mendel

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For our Biology, Culture, and Evolution class, we had the opportunity to have our DNA tested for various health and ancestry markers. I have been reluctant to blog about this experience because some of the information I learned was shocking at first. I think now that I have had some time to wrap my mind around my results, I am much more comfortable sharing.

4: It helps you prepare for your future health.

Even though the information provided by 23andMe is by no means a diagnosis or set-in-stone, the information has helped me plan what I need to prioritize as far as my health is concerned. Doctors have all these recommendations about when you need to get tested and what you need to be tested for, but the list can seem endless. Who has time for all that anyway? I now know what I need to look out for and what specific steps I can take to be proactive about my health. Although I feel that this portion of the results was the most useful, in my opinion, it was also the most difficult for me to process.

Health Risks

 

Even though my risk is most elevated for Type 2 diabetes, my lifestyle choices do not put me at high risk for developing it. The two I was most worried about upon receiving my results were atrial fibrillation and alzheimer's. I have suffered from heart palpitations before when I was experiencing stress. I also have a family history of alzheimer's disease, but it is so far removed from me (great-great grandparent or something) I never thought I could suffer from it. This was the worst information for me to learn, I think, and the reason why I took so long to blog about my experience with 23andMe. In my head, I'm aware that my results aren't a diagnosis, but the information shocked me anyway. Despite the difficulty, I am glad to have participated. I would always rather know the risks than be blissfully ignorant.

3: You can learn things about your ancestry you didn't know (or confirm what you did know).

I'm European.

#shamelessselfie

Can you believe it?! I definitely could. The reason I found this part of the results so interesting is because it confirmed what I knew about my ancestry COMPLETELY.  I knew before hand that I am descended from Irish and German ancestors, which are exactly the results I got.

Chromosome view

 

It's kinda neat to have a firmer grasp on me heritage than before. Another cool feature of the ancestry results is their assessment of your Neanderthal ancestry. According to my results, I am in the 94th percentile of all users since 3% of my DNA is associated with Neanderthals. I think this number is the highest in my class, although I'm not positive. Apparently some of my ancestors were getting down and dirty with some of our Neanderthal neighbors. I can dig it.

2: You may meet family members you didn't even know you had.

This consequence from 23andMe was a complete surprise. I have been contacted by nearly a dozen people who share enough genetic markers with me to be cousins. To be clear, the only information these people are given is that we might be cousins. When you see someone who might be related to you, you have the option to contact them, and then the recipient of your request will need to accept it before you can communicate back and forth. Even if you choose to communicate with one another, you can opt to hide your results from them if you feel uncomfortable. The closest relatives I have on 23andMe are possible 2nd and 3rd cousins, but I have been contacted by multiple possible 4th cousins. One even sent me a family tree, asking me to place myself on the tree where I fit in based on my knowledge of my family history. I don't have a fun picture to use here, since the family tree is 40 pages long and may have information others on the tree don't want to share. But it's pretty cool to think about!

1: Sometimes, it's like a freakin' crystal ball!

I've already said how uncanny it was to have 23andMe affirm my ancestry. Here's some more of my crazy accurate results.

Traits

 

If you remember the picture of me from above, the eye color/straight hair stuff is spot on. The rest of it is pretty darn accurate too (of course, I wouldn't know anything about my alcohol flush reaction, not being 21 and all). These results also labeled me as lactose tolerant, which is true. I think learning new information about my genome was interesting, but seeing how it mirrored what I already knew about myself made the results even more exciting. I guess validation can be pretty exciting.

 

All-in-all, I am very grateful I had the opportunity to participate in 23andMe testing. The anxiety I felt when I first received my results is more a consequence of being a constant worrier. Now that I've had time to sit on the information, I welcome the future with open arms, hoping that I have little more knowledge moving forward.

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Published on 3 Comments on 23&me Results

When I did 23&me I was most excited to learn about my ancestry. My 23&me results were somewhat disappointing. Both sides of my family claim some Native American ancestors, but 23&me says that I am 98.4% European and of that 79% Northern European with the rest being non-specific European. I am only 0.8% Native American, which is enough to show that there might be something in my past, but not as recent as some family members would like to say.  I have a small amount of German/French ancestry (3.4%), but the cool part about that is that it is all located together on one of my two second chromosomes. So I have almost an entire chromosome that is from German/French ancestry. The 0.8% Native American is also together in one piece indicating that it came from one place, which is pretty cool. I could be possible that the genes from my Native American ancestor were lost during crossing over events in my parents, grandparents, great-grandparents, etc. So there still could be more Native American ancestry than what shows up. So I now know a lot more about my extended heritage, but nothing ground breaking or exciting was found.

Probably one of the coolest ancestry things I found is that I am 3% Neanderthal putting me into the 88th percentile. That is pretty cool, and makes sense with my Northern European ancestry.

When it came to my health results, there was only one thing that was major for me: I have two copies of the APOE ε4 variant. This increases my risk for Alzheimer's to 39.9%. If you have a family history, you can assume that this is correct or even raised. My grandmother and two of her siblings are currently suffering from the disease. My risk factor for this is extremely high, and this is pretty scary. I'm not really sure what all there is that I can do about this. There are no confirmed ways to prevent it. I'm not guaranteed to get the disease, but with my family history, I have to admit that it is extremely likely.

There really wasn't anything else significant that I found. It knew my hair color, and eye color. One other thing I found interesting is that I am "likely a sprinter." I've never been much for exercising, but running has always been my preferred thing to do if I am going to exercise regularly. Maybe I should start running more often.

 

 

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Published on 1 Comment on 23andMe

My 23 and me genetic results were pretty blah. I was really hoping for something exciting or weird to pop up but that never happened. Although I still think my results are very interesting, I was just wanting some pizazz. I found out that I am 8.2% British and Irish which I pretty much already knew. I am 2.9% neanderthal which puts me in the 84th percentile, so I guess that is kinddddd of cool. My ancestry mainly comes from the UK, Ireland, Finland, India and Belgium. My most elevated health risk is rheumatoid arthritis, which I thought was great as opposed to something like cancer. The average person has a 4.2% risk of having rheumatoid arthritis and my risk is 9.0%. I am also at an elevated risk of melanoma, celiac disease and lupus. Under the inherited conditions section the only things I had variants present for hemochromatosis and glycosylation type 1A. I did not know what either of these things were so I did some google-ing and discovered that hemochromatosis is caused by the body absorbing too much iron from food and can lead to cancer, heart arryhythmias and cirrhosis. Thankfully this is more likely to be serious in men. Glycosylation type 1A is an inherited metabolic condition which mostly affects many systems of the body but mainly the nervous system. 23 and me also told me that if I were a smoker I would most likely smoke more.

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Just a little over a month ago now, our 23 and me DNA test results came in. After waiting only a few weeks for our spit to be analyzed, the data is all in.

My heritage wasn't particularly exciting, 93.2% was from South and Southern Europe. Although I did have 5.5% from Northern Europe. This could potentially back up one of my family member's claims that I had a great great grandfather or some-such, that was a Swedish sea captain. I also have .3% from the Middle east/North Africa, and <.1% from Oceania, which are both surprising.

When I look at my traits, I see that I am likely a taller than average male, with brown hair, brown eyes and a fast metabolism for caffeine. So, they more or less hit the nail on the head with this. And when I looked at my health risks, I see I am at a slightly increased risk for coronary disease, and a decreased risk for several other disorders and diseases.

This entire process was not only easier than I thought, but a lot faster as well. I would recommend this process to anyone wjo would want to learn more about their heritage and genome.

Fun Fact: the guys responsible for the song "What does the fox say?" did 23 and Me and had their results on their show.  I've linked the segment to the photo below.

I Kveld med Ylvis

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Published on 1 Comment on 23 and Me Results

This past couple weeks I've had the chance to look at my 23 and Me results and discuss it with my mom some, both of which gave me some insight.  Heritage wise, I'm pretty vanilla. Literally. I'm 99.7% European, and more specifically 83.8% Northern European.  2.9% of my DNA is from Neanderthals, which is the most exciting part of my ancestry.  On to the interesting stuff.

I found out that I am a carrier of the Rhizomelic chondrodysplasia punctata type 1 (RCDP1) gene.  Basically, if I am unlucky enough to have children with someone else who is carrier, my kids will have a one in four chance of being affected.

From 23 and Me website
From 23 and Me website

RCDP1 is a rare but horrible disease.  About half of kids with it will make it to school age.  According to 23 and Me, children with this disorder  have "skeletal abnormalities, congenital cataracts, growth failure, seizures and profound mental retardation."  They don't function anywhere near a normal child and would essentially need a full time nurse their entire lives.  Needless to say, that I'm a carrier is a little worrisome for me.

I'm at higher risk for psoriasis, although I don't know anyone in my family that has it.  I'm also at higher risk for age-related macular degeneration and restless leg syndrome, the latter doesn't surprise me at all. I'm at higher risk for Celiac disease, which I need to look into some more to see how it's related to the gluten sensitivity/allergy that my sister has.  Now to the happy part.  I'm at low risk for coronary heart disease, gout, Alzheimer's (which I'm really happy about because that disease simply scares me), and rheumatoid arthritis.

Interestingly, I can taste bitter flavors. On one hand, I really dislike brussel sprouts.  On the other, when I think about the bitter things we tasted in class it seems like I can't taste bitter. The tonic water wasn't bitter at all (I'd just as soon drink that as Sprite), I like dark chocolate, and asparagus and broccoli are two of my favorite vegetables.

All in all, I'm happy I participated in 23 and Me.

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I was excited to receive the results of my 23andMe test this past week. I had been interested to see the results of my heritage as well as the health risks I am prevalent to in the future. The three diseases I am most prone to are coronary heart disease, type two diabetes, and breast cancer.  None of these are too shocking because I have had family members that have had these diseases. My ancestry was not much of a surprise either, but it was still interesting to find out more about where my family came from. I am 99.7% european which is not a shock at all based on my skin, eye, and hair color. I am .1% Native American and 2.8% neanderthal which is slightly above average.  The only issue I had with the test is that it could not determine my paternal lineage. This is obviously because I am a woman and do not have the y chromosome. The only way I would obtain this information would be if my dad also did the 23andMe test.  Overall, my results showed nothing that shocked me, but they were still interesting to learn about.