Genomics & Race

December 2004
Written by Brian Hansen & Catherine Anderson

Race Genes?

No. There are variations within our genes, but the overwhelming majority don’t occur along the lines we define as racial.

But scientists have discovered quite a bit about the biological markers that point to our interconnectedness as human beings. In some cases, cultural beliefs have been substantiated by information in DNA.

One Big Dysfunctional Family

All of us human beings share 99.9% of the same DNA. This really makes sense when you think about it. After all, normally we all have two arms, two legs, a torso, the same internal organs, a head with a wonderful brain cushioned inside, a skeleton and muscles to give us shape, skin to cover us, sense organs to monitor our world(s), etc., etc., etc.

In light of genetic data that’s been uncovered in the last 20 years, scientists speculate that we’re even all related to a single small human population that hunted, gathered, argued, fought, bred and died in Africa some 100,000-200,000 years ago.

And if that’s still too far in the distant past for you to find relatives, Michael Hopkin, in a recent article in the UK’s prestigious Nature magazine, points out that we human beings are even more closely related than we ever imagined. He summarizes research done by Douglas Rohde and colleagues at MIT indicating that everyone living today has a common ancestor who lived a mere 3,500 years ago. No wonder we have trouble getting along: we’re family!

And although humans have been (and probably will continue to be) great migrating interbreeders, the main reason we share so much DNA is that so much of it codes for ‘simply’ being human!

Of course, when you look at the TREMENDOUS visible physical variation among individuals in your neighbourhood, your city, your country, hemisphere and planet, you realize that this ‘leftover’ 0.1% contains some pretty significant information! But there isn’t one gene that makes you a particular race. Again, there are variations within our genes – but they don’t occur along lines that we define as racial.

We’re Genetically Divided in Fewer Ways than We Think

Today, race is considered to be a cultural construct, defined more by language and custom than by biology. Nevertheless, there is general agreement among population geneticists that there are five groups (see below). It just isn’t always easy to fit people into them.
"Noah A. Rosenberg and Jonathan K Pritchard, geneticists formerly in the laboratory of Marcus W. Feldman of Stanford University, assayed approximately 375 polymorphisms called short tandem repeats in more than 1,000 people from 52 different groups in Africa, Asia, Europe and the Americas. By looking at varying frequencies of these polymorphisms, they were able to distinguish five different groups of people whose ancestors were typically isolated by oceans, deserts or mountains: sub-Saharan Africans; Europeans and Asians west of the Himalayas; East Asians; inhabitants of New Guinea and Melanesia; and Native Americans. They were also able to identify subgroups within each region that usually corresponded with each member’s self-reported ethnicity.” (Michael J. Bamshad and Steven E. Olson. Does Race Exist? Scientific American [November 10, 2003])
Geneticists use these kinds of classifications to approximate a population history. And because social definitions of race are so varied, it may surprise some people that geneticists identify so few groups. People from Northern Europe, the Middle East, and India are all considered Caucasians: culture and history divide us, not our genetics.

Common DNA and Common Culture


Genetic information can now be used to identify a common heritage among members of a particular cultural group (Bamshad and Olson, 2003), even when that cultural group includes a number of ‘races’. For example, there have been very interesting studies done on male representatives of the Cohanim (Cohen) priestly line in Jewish population groups all over the world.

According to Biblical tradition, the Cohanim trace their line back three thousand years to Moses’ brother Aaron. Dr. Karl Skorecki hypothesized that all these Cohanim would share a common Y chromosome if they are all truly descended from one man. It turns out that they do.

The clues lay in mutations in the non-coding regions (non gene-containing regions) of the Cohanim’s DNA, specifically, of course, on the Y chromosome. Y chromosomes get passed from father to son, so they demonstrate a patrilineal history. The non-coding regions of the Y chromosome don’t undergo recombination because its pair, the X chromosome, is sufficiently different. Therefore, that non-coding region of the Y will stay stuck together.

Since the genetic information determining maleness occupies minimal space, the Y chromosome is made up mostly of non-coding regions of DNA. Now over long periods of time, mutations tend to accumulate in these non-coding areas. (When mutations occur within genes, disease or some other malfunction generally results which tends to be selected out in the generations that follow.) Non-coding regions can be a repository of ancient mutations. On the Y chromosome, sections of these mutations can form a ‘genetic signature’ identifying male descendents because information on the Y chromosome is passed directly from father to son without going through recombination.

When Skorecki’s researchers analyzed particular markers on the Y chromosomes of Ashkenasic and Sephardic Cohanim, they discovered that “more than 95% of Ashkenasic and 87% of Sephardic Cohanim had the same simplified haplotype.” (Hamer, 2004, page 189)

It’s important to point out that this ‘Cohanim sequence’ occurred in Jewish people of many ‘racial’ types: red-haired people with blue eyes and freckled skin, dark-skinned people with crinkly hair and brown eyes and so on.

So in the case of the Cohanim, DNA evidence further legitimized a tradition: only the biological son of a priest was allowed to function as one. And because the Cohanim come from different races, their social function within Judaism transcends the popular conception of race. The multi-racial character of the Cohanim is a demonstration that stronger elements than race unite people, and help turn us toward the more genetically meaningful differences that ‘individualize’ them.

Populations and Individuals

“Approximately 93% of human genetic variation occurs between two people in the same race - 85% between two people of the same ethnic group and another 8% between ethnic groups within a race. That leaves only 7% of variation between the major human races”.

(Lewontin, 1991)

When compared, racial group populations exhibit a very similar broad range of typical human variation:

“All populations have people who are taller and shorter, fatter and thinner, braver and more timid, introverted and extroverted, more decisive and more dithering. There is no continent of uniformly brunette people to contrast with one of uniformly blond people, or of uniformly tall people to contrast with one of uniformly short people. The traits that differentiate Swedes and Kenyans at the “racial” level are actually a very small proportion of the differences detectable, which are distributed primarily among members of the same population and between populations on the same continent.”
(Marks, 2003)


Even though certain diseases are more common in some groups, the same mutations occur in other groups as well. Plus, we often quote a subset of a race when discussing increased frequency of a disease. Cystic Fibrosis, for example, is a common disorder among Northern Europeans, with 1/25 people being carriers. It is thought that having one mutated copy helped protect this group of people from cholera. (It is worth getting CF in 1/2500 births because 1/25 people are better able to survive cholera).

Mediterranean populations do not have an increased risk of CF but do have increased incidence of thalassemia. Interestingly, thalassemia is increased in Mediterranean and Africans populations where malaria is present – two different “races”. Although both Northern European and Mediterranean populations are Caucasian, the history of the populations has shaped the frequency of genetic disorders.

Basically, there are differences across populations but they’re of no appreciable value when you are identifying one person. A Chinese woman may have smaller feet on average than the average Caucasian woman but that doesn’t tell you what size of shoes to get her - or what kind of shoes she likes.