Survivors of shipwrecks along the Western Australian coast may have introduced a mutation for variegate porphyria into the Aboriginal population prior to first settlement. To assess the mutations responsible for variegate porphyria in Western Australian Aboriginal patients, particularly the R59W mutation, which is the most common cause of variegate porphyria in South Africa. New cases of porphyria were diagnosed by biochemical separation of porphyrin subtypes. Single-stranded conformation polymorphism analysis and DNA sequencing of the protoporphyrinogen oxidase gene was performed on Aboriginal patients to define possible causative mutation sites. Of the 296 new cases of porphyria diagnosed in Western Australia from 1978 to 1998, six had biochemically proven variegate porphyria. Three of those cases occurred in Aboriginal patients. Evidence for a possible fourth Aboriginal case of variegate porphyria is described. The R59W founder mutation responsible for over 90% of variegate porphyria in South Africa was excluded. Two new mutations that predicted amino acid substitutions with significant effects on enzyme function were detected in conserved regions of the protoporphyrinogen oxidase gene in one Aboriginal variegate porphyria patient and the possible fourth case. Results suggest that the mutations causing variegate porphyria in the Western Australian Aboriginal population occur sporadically and were not inherited from shipwrecked sailors.
https://www.researchgate.net/publication/11079282_Variegate_porphyr...
Porphyria Variegata (English)
Gerrit Janse van Deventer and Ariaantje Jacobs were ill with it [Porphyria]. It is likely that one or both of these individuals carried the porphyria gene to South Africa. [3]
Two of the founders of the European population in South Africa were Gerrit Jansz and his wife Ariaantje Jacobs. Pedigrees have traced the start of porphyria in South Africa to these two individuals. They had eight children, four of whom suffered from porphyria. A critical question asks which of the parents suffered from porphyria? Gerrit Jansz came from the Netherlands (the only other place in the world where porphyria is relatively common) and we know that Ariaantje's sister had a son with porphyria increasing the likelihood of Ariaantje having porphyria. It could even have been possible for both to have had it (What a coincidence!!!!) Draw a pedigree of Gerrit and Ariaantje's family. Assume for simplicity that only Gerrit suffered from porphyria and that he was heterozygous (Aa). Determine the genotypes for their eight children. Imagine that all of their children married non-affected individuals, and they each had four children. Determine the probability of Gerrit and Ariaantje's grandchildren having porphyria and assume that the probability expectations were met in reality. How many of Gerrit and Ariaantje's grandchildren suffer from porphyria? (Eight) If all the grandchildren married and had four children, how many of Gerrit and Ariaantje's great grandchildren would suffer from porphyria? (Sixteen). [4]
The History of Porphyria:
After the British doctor Geoffrey Dean was settled in South-Africa in 1947 he saw, over a short period of time, many patients with a striking disease. They suffer from stomach-ache, vomiting, constipation, muscular-weakness and restlessness. Some patients suffer attacks of insanity which caused high blood-pressure and a rapid heartbeat. Most of the patients also had skin defects like blisters and strong pigmentation as a result of sun exposure. Recent infectious disease, alcohol abuse or a period of fasting, could provoke the symptoms. But even more often he noticed that medicine and especially barbiturates, anti-epileptics and narcotics used during operations, exhorting the symptoms. Because the disease was unknown, Dean couldn't give the patients proper treatment. Mostly the patients turned became so sick that treatment was no longer possible. Eventually they died a horrible death. Restless patients were given barbiturates, unfortunately this caused in many cases an even quicker death. The patients with severe belly ache were hospitalized and underwent an operation. The necessary narcotics during the operation often caused a premature death. It was most likely that the new drugs brought to South Africa reveal the sleeping genetic disease, which was present in South Africa long before Dean discovered it. It didn't take Dean very long to suspect that the disease he saw, was the metabolism disorder porphyria, a rare type not known in Europe. He named this disease Variegata Porphyria (VP). The research took Dean all over the world including the Netherlands. Dean found out that this disease was common among the white farmer families, but less common among the black population. He found out that he was dealing with a fast growing genetic disease.
The connection among the farmers and their traditions concerning name giving to their children, was very helpful to Dean with his research. The first son was named after father's father, the second was named after mother's father and the third son was named after his own father. If the women gave birth to a daughter she was named after the mother's mother, the second after the father's mother and the third daughter after her own mother. It wasn't after child no.7 where the parents were free to choose a name for their child. In those days it was common to give birth to 7 or more children. It was Dean who identified the "Founder" of porphyria in South Africa. He found out that it was most likely - and DNA research for the last couple of years is making this even more likely - Ariaantje Adriaansse ( Jacobs ). With seven other females (incl. her half-sister Willemijntje ) she arrived in Kaapstad with the VOC-ship "China" in 1688. Ariaantje married Gerrit Janz van Deventer in Stellenbosch. Who exactly passed on the disease to 4 of their 8 children is not quite clear. In Deventer ( Netherlands ) where Gerrit Janz came from, lived and live many people with "Variegata Porphyria" (VP). This makes it likely that Gerrit Janz was the carrier of the genetic defect. But after more research Dean found out that the son of Ariaantje's half-sister Willemijntje also had VP. So this makes Ariaantje to be the prime suspect of carrying the defect. Dean wrote a book called "The Porphyrias" in 1963. In this book he came to the conclusion that the cause of VP was due to an defect of a dominant gene that was not based on gender (autosomal dominant). If one of the parents carry the disease, 50% of their children will inherit this disease. With genetic research still going on at Erasmus University (Rotterdam, Netherlands) they proved that the South African VP came from the Netherlands ( Ariaanje Adriaansse ) and has spread out from one single source. Willemijntje's son Hendrik had VP also, just like his mother and his aunt Ariaantje. When Hendrik was caught by the police, because he had a fight with one of the locals, due to alcohol abuse, they deported him to the East. Hendrik the cousin of the "Founder" of all the African people with VP, was deported to Batavia. But he never arrived there, because his ship was stranded on the west-coast of Australia. Hendrik stayed in Australia and most likely brought the disease there. [4]
Both have a common genetic diseased Porphyria Variegata. Dr Geoffrey Dean from Dublin an expert in this disease looked at this common connection. One of the theories is that both Hendrik Biebouw's mother and his mother's half sister Ariaantje Jacobs (married to Gert Jansz van Deventer) were the carriers of this disease. However more recent research indicate that they are two different strands of the disease
Australia
