I can see the status bar

Chapter 745 Experimental

As the sun was setting, Sun Li'en waited until [-]:[-] in the office.

The sequencing company finally called, and Sun Lien did get the result he expected - Tang Min's 18q11.2.

"This result must be abnormal, but we are not sure what the significance of this abnormality is." When calling Sun Lien, Ms. Qian was actually very disturbed.The hospital entrusts the sequence, which needs to give a clear diagnosis opinion.But... No matter how many databases were searched, the report of chromosomal abnormalities in this region still had no trace at all.

"Is it because there are few mutation reports in this region, or is it because the consequences of the mutation are uncertain?" The comparison of genetic databases, a hundred Yuan Ping'an tied together, is not as professional as a sequencing company.Although the other party clearly said "I don't know what the meaning is", Sun Lien is more concerned about the number of related reports.

Strictly speaking, with the advancement of modern medicine, new genetic diseases should become less and less common.The vast majority of babies with genetic mutations do not even develop normally, and a large proportion of genetic mutation children born will die at a very early stage.Therefore, those who can grow up smoothly and show symptoms of genetic diseases... are actually a very small part.

Most of these children are mainly deficient in certain enzymes or proteins.Occasionally there are children with cardiovascular and cerebrovascular problems.With the advancement of modern medicine and the improvement of various sequencing methods, more and more genetic diseases have been confirmed and locked in the 21st century-now if you want to discover a new genetic disease, in terms of probability, it is A very slim thing.

But no matter how slim the probability is, multiplied by the 70 billion people in the world, it will become a huge number that cannot be ignored.And what Sun Lien wanted to determine through a tricky route was this - if there were other similar chromosomal mutation reports, maybe he could find something in common with Tang Min from those reports.

"So far...no discovery." However, Ms. Qian's answer completely shattered Sun Lien's attempt to take another shortcut. "We also don't see other institutions or individuals requesting to compare the records of this region - I have privately asked several companies that are closely related to us, and they have never seen a precedent of this region mutation causing disease in their work anyway. "

There is no precedent, so of course it cannot be used as a basis for rejecting Sun Lien's diagnosis.But it does cast a cloud over the diagnosis of underexpression of AQP4 protein.According to related research, there is indeed no problem with the localization of the control gene of AQP4 protein, but...the application in the diagnosis of human diseases still needs some more sufficient evidence.

Sun Li'en made a decisive decision and called Yuan Ping'an.Yuan Pingan, who was dragged out of hundreds of Chrome pages by his team leader with a phone call, was a little bit dissatisfied at first, but after hearing Sun Lien's request, he quickly understood the importance of this request, and made that little bit of dissatisfaction go away. Forget it.

"You should contact the pathology department of the Tongxie immediately and ask how long the paraffin samples they received can be stored—how is the storage environment?" After successfully reusing the samples, Sun Lien was suddenly full of thoughts about himself confidence. "If the storage conditions are ideal, please do an AQP4 protein mRNA measurement on the sample."

For biopsy of samples, especially for such difficult diseases, the preferred method is naturally paraffin processing of samples.After the test is done, the paraffin samples are generally not directly thrown into the trash can - different pathology departments have different regulations on the preservation of paraffin samples.But one thing is certain - the two biopsies failed to detect the sample that was the problem. For the association, the value of scientific research must be greater than that of other samples.This also means that Tang Min's previous brain biopsy samples may be preserved under the best conditions.

But... Sun Li'en doesn't understand this kind of thing.In fact, even Yuan Ping'an had never experienced such a thing.Neither of them knew whether the pathology department of the Tongxie would keep this sample.

Yuan Pingan directly took out the phone and started calling Professor Zhu, while Sun Lien turned to look for Professor Zhang Zhifu.In addition to Tongxie, Yunhe City Infectious Disease Hospital also performed a biopsy on Tang Min.Although more than half a year has passed since that biopsy... But at least it is a direction to work hard.

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"You can't count on Yunhe's samples." Ten minutes later, Sun Lien returned to his office with disappointing results.He complained to Yuan Ping'an, "Old Zhang said that the pathology department of the infectious disease hospital never keeps samples. Valuable infectious samples are either sent directly to the CDC or to research institutions—in short, they don't keep them themselves."

Yuan Pingan spread his hands, "Infectious disease hospitals...their storage regulations are of course different from ordinary hospitals." As he said, he raised the phone in his hand towards Sun Li'en, "I have already called Mr. Zhu He called, and he said that he would go to the pathology department to ask about it now."

There is at least some hope for the Association.This made Sun Li'en feel a little more at ease.Of course, if the Tongxie did not keep the samples, the situation has not reached the point of no return.If not, another biopsy is not completely unacceptable.But compared to that, Sun Lien still wanted to find a safer method.

"Suppose, suppose." Sun Lien dragged Yuan Pingan, who was about to go back to look at the Chrome page, and began to organize his thoughts, "Assuming that Tongxie's samples are gone, can we use other methods to confirm the insufficient expression of AQP4 protein? diagnosis?"

"Do you have any ideas?" Yuan Pingan didn't have anything else to do now, and seeing Sun Lien's constipated face, he really couldn't bear to leave Sun Lien here alone with a headache. "There should be none of the existing non-invasive detection methods that can meet the diagnostic requirements."

"When diagnostic methods are unavailable, we generally consider using some diagnostic and treatment options." Sun Lien continued to reason his thoughts, and at the same time, his hand touched his desk—there were a few documents he had just printed out on it. . "The phosphorylation of AQP4 protein can affect the water permeability of AQP4, have you read this literature?"

"I see." Yuan Ping'an nodded, this is one of the treatment options he is currently considering.

If they don't consider confirming the diagnosis, but only consider the treatment plan, there are not many means they can come up with now.Improving the water permeability of AQP4 protein through protein phosphorylation is a more valuable endeavor at present.

(End of this chapter)