It is patently obvious that the Rh negative gene is much simpler than the posistive gene. Equally as obvious is that it had to have preceded Rh+ in evolution.
The Basques have long been the source of historical enigmas and debates. Their language confounded historians, linguists, and whoever else tried to track down its origins and affiliations, to begin with. In time, they realized it was an isolate and therefore a dead end.
A few stubborn speculators keep tossing out possibilities every now and then. But Basques is not related to any other known languages.
They were an outlier population then and they still are in spite of the recent genetic DNA testing conducted to pierce the veil. In some ways the recent study results have added to the mystery and put a sharper point on it. The Basques are a breed apart.
It began many decades ago, in fact.
In the early 1950s, physician, blood specialist and geneticist, Arthur Mourant published a book that was titled: The Distribution of the Human Blood Groups.
It was an exhaustive volume that contained the results of tests done on half-a-million people. ABO blood group analysis was the state-of-the-art genetic testing method back then. Dr. Mourant was as intrigued and mystified by the Basques, as academics had been, but why?
He was not looking at their language or other historical anomalies, but at their genes. His idea was that the blood-groups were the key to unlocking the hidden genetic history of the Basques.
That premise regarding genetics, applied to anthropology and history, remains virtually unchanged to this day.
It was thought the ABO genes held the human traits that bore the pure logic of Mendelian inheritance. Surely the mysteries of the Basques could be resolved by peering into them without any bias or subjectivity.
The Basques are now known for their very high frequency of the paternal y haplogroup R1b; and their having the highest frequencies of type O- negative blood. But they also have the highest frequencies of maternal haplogroup H, H1, H3, in Europe.
Once again, they still stand apart as true outliers, even on genetic DNA terms. But that was not their main mystery back then. Blood group researchers had only chanced upon a very important rare blood type in 1941. That was the discovery of the Rh-d blood genes, without that knowledge, many blood transfusions were still failing.
The discovery of the basic ABO groups had improved the horrible failure rate of transfusions prior to their discovery early last century. But finding the Rh-d negative gene improved the situation radically for the better.
Anyway, the Basques were found to have a very high frequency of the Rh-negative blood type. That was their badge of honor or the mark of Cain, in Maurant’s, day (even to this day, depending upon one’s perspective.)
Ironically, his first research project on blood-group distributions began with the Basques and their Rh-genes. It worked out that way because the eminent geneticist, mathematician, et al., J.B.S. Haldane had remarked about how peculiar it was that the Rh-d negative gene had survived into modern times.
Researchers had soon discovered that mothers with Rh-neg had an incompatibility issues with Rh+ fetuses. In addition, that this rare blood type was recessive to the A, B and Rh+ genes. They had realized that the Rh- could not survive the transmission rules that govern the ABO Rh blood groups. Not in a mixed ABO population anyway.
Rh-d genes (Rh Negative) would be automatically selected out and thinned down, more and more, with each succeeding generation.
This made the Basques even more interesting and peculiar to say the least. Maurant never solved that riddle however; but he did go on to pioneer the use of genetics as it has been applied to anthropology and history ever since.
Even in that day, it was already assumed, by many, that the Basques were a relic, Paleolithic population. The newest genetic tech-kids on the block, the paternal y and maternal mtDNA gene studies have only sharpened the edge and put a finer point on their mystery, in my view, at least.
Nonetheless, something is missing from the new genetic studies and that is the old ABO data so painstakingly acquired last century. Along with it, the ‘White Elephant’ hiding in plain sight in the lab, the Rh-d enigma.
Somehow the fact that it has never been sorted out got lost in the transition from one genetic tool set to another. The latter neither goes as far, back in time, nor as deep in the genome, as the former.
The ABO genes that determine the blood groups are nuclear, within the chromosome. The mtDNA genes form a cluster outside of the chromosome in mitochonrial cells.
The ABO genes are very stable and mutate very infrequently compared to the mitochondrial genes (Four times in an estimated 20 million Years. This means that they give a picture of the very long term genetic ancestry of an individual or group.
The Basques R1b y, or H1 maternal haplogroups are giving a short video clip of those genes in and around the Neolithic era to present. Before then there were older, precursor versions and before those, even older, founder versions.
The ABO genes are a very long series, a 10 part movie set, not a trailer clip. The high frequency type O and O- genes go all the way back to dim genetic origins. I find it odd (and a bit ironic) that the newer studies seldom contain even references to the former ABO test results, let alone do the reseaarchers use the data to confirm or to compare newer DNA results against the former.
Now, for the reality check. It just so happens that Rh-negative never comes up in the new genetic studies. How convenient. I think we all know by know that our academics have a profound distaste or perhaps allergy to anomalies. If data does not fit their preconcieved paradigm, ignore it.
The Rh-negative enigma never went away, it is still with us. Only buried and out of sight, out of mind…or so it looks on the surface.
It does not come up in current research so just let it be, seems the prevailing attitude. However, the Rh-d enigma is too deep, important, and persistent a reality to die quietly in a dark corner.
It is coming up just not where expected. The extreme headlines remind us of that: ‘Rh-Negative is Alien Blood, Researcher Claims…’
That has actually become a popular thesis that many people blindly accept. As bizarre as it is, the only ‘scientific’ proposals I can find suggest that they are going to talk seriously about Rh-d and its origins, but they invariably skirt the issue.
These usually come in articles with a science slant, and style like those in Smithsonian magazine and others like it, for example. They tend to begin with a fact or two, then veer off and discuss distribution patterns or O-negative representing some kind of unidentified mutation or other.
I have yet to read one that rolls up its sleeves -- gets to the nuts and bolts basic ABO facts -- and cuts to the chase.
What is Rh-negative in terms of cold, hard scientific data?
This has gone far beyond being a purely academic issue. In fact, many people with type O- blood have been unnerved by the public clamor; even disturbed by the kinds of sensationalist news stories appearing regularly these days.
I have read their upsets and anxieties on Rh- websites and communicated with people who have the blood type. But that is far from the only reason to get serious about Rh-d blood genes.
The truth is that most people do not know that much of the world’s population have little to none of this precious blood, and never did. And this causes medical emergencies due to shortages.
For example a (2010) study from Nigeria reported, “The frequency of rhesus D (RhD) negativity in the Nigerian population ranges from less than 1% to about 6% in different ethnic population groups across the country. Consequently, there is often a severe scarcity of Rh-d negative.” (SG Ahmed - Transfusion medicine reviews, 2010]
Oh, of course scientists know why Rh-d matters but most people have no idea what all the fuss is about. In fact, science knows a lot about it. After all, it is the Universal Donor and very much needed in ER settings, that even professors and lab scientists, use on occasion.
Truly, it really is not simply fodder for the academic mill to chew over; the Rh-negative controversy could get downright jugular. Especially if geneticists don’t step up to the plate and lay down the truth without all the smokescreen, technical jargon.
That does not seem to be forthcoming so I will.
Time to set the record straight with disclosures of the full facts.
Of course the true scientist, Mr. JBS Haldane had it right. The Rh- negative blood type is recessive to Rh+. Geneticists know this, it is the implications that trouble the scientific status quo across the board. In addition, type O+ is recessive to A and B and that makes O- negative doubly recessive.
What Haldane was inferring was the obvious tacit conclusion. For the Basques to have high O-, they must have been isolated from A, B and Rh+ for a very protracted period. If they had been in a mixed population Rh-d would have diminished to near zero long ago.
I submit that type O- Rh negative is, in fact, the ancestral blood group and it originated in the ancient, remote Basque population. Can I prove that assertion?
1. First, by using the basic premise of evolutionary logic. Type O-negative has the simplest gene configuration. The Rh+ positive represents the first mutation. That is exemplified in the simplest of educational charts shown at the onset of this article and below.
As this basic chart shows, and I mentioned above, Rh-d is the simplest blood type. Therefore, it must be the primal human blood group.
2. Second, it is also a fact that ‘O Rh-negative’ is the one and only, Universal Donor. Seldom are the pivotal, underlying dynamics ever brought up, or the implications of that analyzed, however. It is so because the A, B, AB and Rh+ recognize it as self when transfused. That can only mean one thing, it is the parent, the ancestral type.
Put another way, the Rh-d type represents the genetic substrate or baseline of the ABO Rh system.
That seems readily apparent, yet I do not see it ever being referred to or brought up for discussion. But, to satisfy skeptics, who will ask if I can offer further proof to back up that claim? I offer the following:
3. Yes, a study published in Nature Biotechnology in April, 2007 revealed a method that was used by a team to convert A-, B- and AB- into type O-. (Towaards universal red blood cells, G. Daniels & S. G. Withers)
That experiment revealed that A and B are mutations on top of O- that can be stripped away leaving the substrate behind. When they achieved that they could do no more with the baseline O-negative.
Only a neutral substrate could act as a Universal Donor. Put another way Rh-, is a generic, neutral substitute for any blood type in an emergency transfusion situation. In fact, that is exactly how type O-negative is used in hospitals and other urgent care medical facilities.
Additionally, I posit that the Basques are the most probable population of origin for the foregoing reasons:
a. Based upon the commonly used logic to determine origins: the highest concentration and overall frequency distribution reveals the likely point or population of origin.
b. There is a steep gradient that declines in Rh-frequency that is similar to the R1b distribution,but not identical.
The black area in northwestern Iberia, with the highest frequency is Basque Country; Rh-d spreads out from that locus. The farther we get away from that point the less there is of it. (The map is of modern frequencies)
Furthermore, it has long been known that the native populations of East Asia, the Americas and sub-Saharan Africa, had minimal to no Rh-negative blood genes prior to the 16th century.
That is still largely true today, however offset by the last 500-year period of European colonization to those continents. The colonizers distributed the Rh-negative type to the global population since then
I don’t need to create mathematical simulations to illustrate what Haldane was getting at. We have a real world, historical demonstration of how the Mendelian ABO genetics plays out. As I noted above, prior to Spanish colonialization the native population was 100 O+ positive.
Through intermarriage the majority of the population of Mexico is now Mestizo, mixed. The ABO frequencies have shifted exactly as the rules that govern the transmission of the ABO genes would predict. The results are shown below:
(Mexico distribution upper, Spain lower)
O: 58.49%; A: 31.40%; B: 8.40% AB: 1.71%; Rh+ 95.36% Rh-d: 4.64%.
O: 36.0% A: 34.O% B: 8.0% AB: 2.5% Rh+ 78.50% Rh-d: 19.5%
The mixed population has an ABO distribution that has already moved fairly close to that of modern Spain in just 500 years.
Not only has the O+ dropped sharply because types A & B have displaced it, but Rh-negative appears at a 4.5% frequency now. That was because Spain had over a 20% level 500 years ago. Even today, the (isolate) Maya are 98% O+, no Rh-negative..
In other regions of the world the Nigerian Rh-d frequency is, 2%, Guinea, 4%; West Bengali, India, 2.3%; the frequency in the general population of Japan is below 1%,
Two tribal groups in India, the Dudh and the Dhelki, in Kharia and a primitive tribe in Sundargarth, Orissa showed an Rh-d frequency of slightly less than 1%.
In China, a cross sectional ethnic study of ABO Rh blood groups, from samples of Uygur, Mongolian, Manchu peoples, showed variations of Rh-d from O.3 to 3.3%.
There is, at this point in time, no ambiguity in the data.
The locus of the Rh-d negative blood group is Iberia. There is also no doubt that the populations presented above that have minimal Rh-d now, had even less 600 years ago, many had zero.
There are, however, pockets of Rh-d concentration in the countries identified within the Atlantic Modal. Also, some among specific Berber tribes in North Africa, the Atlas Mountains of Morocco in particular. But they seem to present unaccounted anomalies not potential founder populations.
The Rh-d blood group is obviously far more than an enigma or a weird, alien anomaly. It has a key role to play in modern medicine and was no doubt the ancestral blood group of humanity.
That it has become a code word for weirdness, is in part due to the failure of science to deal with it head on, to date.
I am well aware of the implications and ramifications to several key theories related to human evolution, migrations and history, currently in vogue. However, that has no relevance to the facts presented above.
That is my response to that whole set of issues and I want to keep the focus on the material in this presentation for now. .
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