As the sun set, Sun Lien waited until 4:50 in the office.

The sequencing company finally called, and Sun Lien did get the results he was expecting—Tang Min's chromosome 18q11.2 was abnormal, and 1.9 petabytes of amino acid sequences were inconsistent with the comparison samples in the gene pool.

"There must be an anomaly in this result, but we're not sure what the anomaly means. When she called Sun Lien, Ms. Qian was actually very uneasy. The hospital commissioned the sequence, which requires a clear diagnosis. But...... No matter how many databases were searched, there were still no reports of chromosomal abnormalities in this region.

"Is it because there are few reports of mutations in this area, or is it because of the uncertain consequences of mutation?" Although the other party clearly said "I don't know what the meaning is", Sun Lien is more concerned about the number of relevant reports.

Strictly speaking, with the advancement of modern medical care, new types of genetic diseases should become less and less common. The vast majority of babies with genetic mutations are not even able to develop normally, and a large proportion of children with genetic mutations die at an early age. Therefore, those who are able to grow up smoothly and show symptoms of genetic diseases are ...... In fact, it is a very small part.

Most of these children have a predominantly enzyme or protein deficiency. 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 identified and locked in the 21st century - now it is very unlikely to discover a new genetic disease.

But no matter how slim the probability is, multiplied by the number of people in the world of seven billion, it will become a huge number that cannot be ignored. And what Sun Lien wants to determine through the tricky route is this-if there are other similar reports of chromosomal variations, he may be able to find a little common ground with Tang Min from those reports.

"At the moment...... Didn't find it. However, Ms. Qian's answer completely shattered Sun Lien's attempt to take another shortcut. "We don't see any other institutions or individuals asking for a comparison of the region's records – I've privately asked a few companies that are close to us, and they haven't seen a precedent for the region to mutate and cause disease anyway. ”

There is no precedent seen, and of course it cannot be used as a basis for vetoing Sun Lien's diagnosis. But it does cast a shadow over the diagnosis of underexpression of AQP4 protein. Judging from the relevant studies, the localization of the control gene of AQP4 protein is indeed no problem here, but ...... Some more evidence is needed for the diagnosis of human diseases.

Sun Lien immediately made a decision and called Yuan Ping'an. Yuan Ping'an, who was dragged out of hundreds of Chrome pages by his team leader with a phone call, was still a little dissatisfied, but after hearing Sun Lien's request, he quickly understood the importance of this request, and put that little bit of dissatisfaction behind him.

"You immediately contact the pathology department and ask how long the paraffin samples they receive will last – what the storage environment is like. After successfully reusing the sample, Sun Lien was immediately full of confidence in his idea. "If the storage conditions are ideal, then please do an mRNA measurement of AQP4 protein on the sample. ”

For biopsy of a sample, especially for this intractable disease, the preferred method is paraffin treatment. Paraffin samples are generally not disposed of in the trash after the test – different pathology departments have different rules for the storage of paraffin samples. But one thing is certain - the sample that did not detect the problem in the two biopsies will certainly be of greater scientific value to the association than other samples. This means that Tang Min's previous brain biopsy samples may be preserved under the best conditions.

But...... Sun Lien doesn't know much about this kind of thing. In fact, even Yuan Ping'an has never experienced such a thing. Neither of them knew if the pathology department of Tongxie would keep the sample.

Yuan Ping'an directly took out the phone and began to dial Professor Zhu, while Sun Lien turned his head to find Professor Zhang Zhifu. In addition to Tongxie, Yunhe Infectious Disease Hospital also did a biopsy on Tang Min. Although more than half a year has passed since that biopsy...... But it's at least a direction to work towards.

·

·

·

"I can't count on a sample of Yunhe. Ten minutes later, Sun returned to his office with a disappointing result. He complained to Yuan Ping'an, "Lao Zhang said that the pathology department of the infectious disease hospital never has samples. Valuable infectious samples are either sent directly to the CDC or to research institutes – in short, they don't have them on their own. ”

Yuan Ping'an spread his hands, "Infectious disease hospital...... Of course, their preservation rules are not the same as those of ordinary hospitals. As he spoke, he raised the phone in his hand towards Sun Lien, "I have already called Mr. Zhu, and he said to go to the pathology department to ask now." ”

There's at least some hope on the side of the association. This made Sun Lien's heart a little more stable. Of course, if the same association did not keep the samples, the situation would not have reached the point of no return. It really doesn't work, and another biopsy isn't completely unacceptable. But compared to that, Sun Lien still wanted to find a more secure method.

"Hypothetical, hypothetical. Sun Lien dragged Yuan Ping'an, who was about to go back to read the Chrome page, and began to organize his thoughts, "Assuming that the samples of Tongxie are gone, can we use any other methods to confirm the diagnosis of insufficient expression of AQP4 protein?"

"Do you have any ideas?" Yuan Ping'an didn't have anything else to do now, and looking at Sun Lien's constipated face, he really couldn't bear to throw Sun Lien here with a headache. "There should be no existing non-invasive testing methods that can meet the diagnostic requirements. ”

"When diagnostic methods are not available, we generally consider some diagnostic treatment options. Sun Lien continued to sort out his thoughts, and at the same time, his hand reached his desk, which contained several documents that he had just printed. "Phosphorylation of AQP4 protein can affect the water permeability of AQP4, have you read this literature?"

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

If they only consider the treatment plan without confirming the diagnosis, there are not many options available to them now. Improving the water permeability of AQP4 protein through protein phosphorylation is a valuable direction at present.