Genetic Testing Can Save Your Life
Genetic testing can save your life, say researchers, as they reveal how they were able to prove that a baby’s DNA can be read from a sample of his or her saliva.
The team from the University of Cambridge’s Department of Molecular Genetics tested a small sample of blood from a baby boy who had a severe form of congenital adrenal hyperplasia (CAH).
The condition causes the body’s immune system to attack the adrenal glands.
The baby’s immune systems would respond to the chemicals released by the adrenals, and this could give rise to a range of illnesses including asthma, asthma attacks and COVID-19.
They found that if a sample was taken from the baby’s saliva and stored for six hours, the team could extract genetic information from it.
Using a method known as PCR, the scientists identified specific DNA sequences in the sample.
They then compared this DNA to a database of the genes in humans known as the NCBI GeneChip, and then sequenced this DNA using a high-speed sequencing machine called a bioinformatics platform.
The researchers say that their results could prove a major breakthrough in the genetic testing of people with CAH.
The baby was born with the condition in April 2014, and since then he has had numerous bouts of symptoms including fever, joint pain, and weakness.
The doctors had hoped to be able to use the DNA test to identify a gene in the boy’s DNA which could be passed down to him, but this would have required a baby with an identical twin, so the team looked for a common mutation in the DNA that could be linked to the boy and his condition.
“We found the same sequence in both boys, and our analysis revealed it to be a common genetic mutation that is present in more than 1,000 human genes,” said study lead Dr Robert Dickson, who is based at the Department of Medical Genetics at the University College London.
The genetic test had identified a gene called ROR1, which is a type of protein that plays a role in controlling the immune system and inflammation.
“ROR1 is very similar to the gene that causes allergies,” said Dr Dickson.
“It’s part of the immune response, and it’s part a lot of the gene regulation.”
In humans, the ROR gene encodes a protein known as a receptor, which allows the immune cells in the body to recognise a particular protein.
The protein binds to the receptor and makes it produce antibodies against that protein.
“This makes the protein able to recognise proteins that have been previously neutralised by the immune defence system,” Dr Denton explained.
This can then be turned on or off.
When the immune reaction against a protein is triggered, the immune defences in the immune responses response will start to attack that protein, resulting in the protein producing antibodies.
“This means that the RORS receptor has a role to play in the response to allergies,” Dr Kavita Krishnan, an immunologist at the British Medical Research Council, told BBC News.
“It’s a bit like a doorstop, it’s blocking the immune systems response to a protein, but also the immune reactions to allergens that the body normally attacks.”
When the researchers looked at a sample from the boy, they found that the same gene was present in both the boy with mild to moderate symptoms and the boy who was in a worse state.
The gene was also present in the mother of the boy.
“That was quite surprising,” said co-author Dr Chris Whittaker, a researcher at the MRC Immunobiology Centre.
“The maternal ROR has been shown to be highly associated with the severity of allergic disease in the child.
The maternal RORS protein has been found to be an important factor in the regulation of the allergic immune response in the fetus,” Dr Whittaking said.”
Our results also show that the maternal Rors gene is present at high levels in both of the child’s siblings.””
The findings show that we are at the beginning of a new era in the genetics of allergic diseases,” Dr Krishnan added.”
What we are really trying to do here is to show that RORs are a common feature in the human genome, and that they are also present at the highest levels in our immune systems.”
When we look at a specific gene, we know that there is a sequence that we can compare to the human version.
And the sequences are quite similar to one another.”
The study is published in the journal Molecular Biology & Genetics.
Dr Krishnan said that the findings had shown that if the gene ROR is present, it can also be found in the maternal line.”
If you have a mutation in that gene, that mutation can also have a role as a trigger of allergies in the offspring,” she explained.”
In humans there is one other gene that is very highly correlated with allergies, and we found that this gene is highly associated as well.
“Dr Krishnan said that it