Robert Sawyer - Frameshift

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Frameshift: краткое содержание, описание и аннотация

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Pierre Tardivel, a French Canadian geneticist, works on identifying junk DNA for the Human Genome Project. There is a 50 percent chance that Pierre is carrying the gene for Huntington’s disease, a fatal disorder. That knowledge drives Pierre to succeed in a race against time to complete his research. But a strange set of circumstances — including a knife attack, the in vitro fertilization of his wife, and an insurance company plot to use DNA samples to weed out clients predisposed to early deaths — draw Tardivel into a story that will ultimately involve the hunt for a Nazi death camp doctor.

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Pierre then worked on adding his special RNA segments to Molly’s DNA, and looked to see if they clamped on anywhere. It took over a hundred tries before he got lucky. It turned out that the sequence that coded for the production of the telepathy-related neurotransmitter was on the short arm of chromosome thirteen.

Pierre used his terminal to log on to GSDB — the Genome Sequence Database, which contained all the genetic sequences that had been mapped out by the hundreds of labs and universities worldwide working on decoding the human genome. He wanted to see what that part of chromosome thirteen looked like in normal people. Fortunately, the gene that occurred there had been sequenced in detail by the team at Leeds.

The normal value was CAT CAG GGT GTC CAT, but Molly’s specimen began TCA TCA GGG TGT CCA — completely different, which—

No.

No, not completely different. Just shifted one place to the right, one nucleotide — a T, in this case — having been accidentally added in the copying of Molly’s DNA.

A frameshift mutation. Add or remove one nucleotide, and every genetic word from that point on is altered. Molly’s TCA TCA GGG TGT

CCA coded for the amino acids serine, serine, glycine, cysteine, and proline, whereas the standard CAT CAG GGT GTC CAT coded for histidine, glutamine, glycine, valine, and arginine; both chains had glycine in the middle because GGG and GGT were synonyms.

Frameshifts usually garbled everything, turning the genetic code into gibberish. Many human embryos spontaneously abort very early on, before their mothers even know they’re pregnant; frameshifts were a likely reason for many of those failures. But this one—

A frameshift mutation that might cause telepathy.

Pierre sagged back in his chair, stunned.

Chapter 21

Although the ground had recently been broken for a dedicated genome facility to be built at LBNL, at the moment the Human Genome Center was shoehorned onto the third floor of building 74, which was part of the Life Sciences Division. Medical research was also done in this building, meaning they didn’t even have to go outside to find a small operating theater.

It was the Friday night of the Labor Day long weekend, the last holiday of the summer. Most everybody was out of town or at home enjoying the time off. Molly and Pierre met Burian Klimus, Dr. Gwendolyn Bacon, and her two assistants in Klimus’s office, and the six of them headed downstairs.

Pierre kept Klimus company outside as Molly lay on a table in the theater. Dr. Bacon — a gaunt, tanned woman of about fifty, with hair as white as snow — stood by as one of her assistants administered an intravenous sedative to Molly, and then Bacon herself inserted a long, hollow needle into Molly’s vagina. Monitoring her progress with ultrasound equipment, Bacon used suction to draw out sample material.

The hormones she’d been treating Molly with should have caused her to develop multiple oocytes to maturity this cycle, instead of the usual one.

The material was quickly transferred to a petri dish containing a growth medium, and Bacon’s other assistant checked it under a microscope to make sure it did indeed include eggs.

Finally, Molly got dressed, and Pierre and Klimus came into the theater.

“We got fifteen eggs,” Bacon said, with a slight Tennessee accent. “Good work, Molly!”

Molly nodded but then backed away from everyone in the room, rubbing her right temple a bit. Pierre recognized the signs: she clearly had a headache, and wanted to put some distance between herself and others to get some mental peace and quiet. The headache was no doubt brought about by the uncomfortable procedure and bright lights, and had probably been exacerbated by having had to listen to Dr. Bacon’s doubtlessly intense and clinical thoughts while performing the extraction.

“All right,” said Klimus from across the room. “Now, if you people will leave me alone, I’ll take care of… of the rest of the procedure.”

Pierre looked at the man. He seemed slightly… well, embarrassed was probably the right word. After all, the old guy was now about to whack off into a beaker. Pierre wondered for a moment what he was going to use to help him along. Playboy? Penthouse? Proceedings of the National Academy ? The semen could have been collected weeks before, but fresh sperm had a 90 percent chance of fertilizing the eggs, versus only 60 percent for the frozen variety.

“Don’t fertilize all the eggs,” said Dr. Bacon to Klimus. “Save half for later.” That was good advice. It was possible that Klimus’s sperm had low motility (not unusual in elderly men) and would fail to fertilize the eggs.

This way, if need be, some eggs would be in storage to try again later with a different donor, saving Molly from another round of needle aspiration.

Once Klimus’s sperm was added, the mixture would be placed in an incubator. Klimus would return tomorrow night at this time to check on what was happening: fertilization should take place pretty quickly in the dish, but it would be a day before it could be detected. He’d phone Pierre, Molly, and Dr. Bacon with the results, and assuming they did have fertilized eggs, they would all return the following night, Sunday evening, by which time the embryos would be at the four-cell stage, ready for implantation. Dr. Bacon would then insert four or five directly into Molly’s uterus through her cervical canal.

If none implanted, they’d try again later. If one or two did implant, a standard pregnancy test should reveal positive results in ten to fourteen days. If more than that implanted, well, Pierre had read about a procedure called “selective reduction” — another reason he hadn’t been keen on having his own sperm generate embryos for IVF. Selective reduction was done many weeks into the pregnancy by using ultrasound to target the most accessible fetuses, then injecting poison directly into their hearts.

“Well,” said Bacon, after scrubbing down and removing her gown, “I’m going home. Keep your fingers crossed.”

“Thank you so much,” said Molly, sitting on a chair across the room.

“Yes, thank you,” said Pierre. “We really appreciate it.”

“My pleasure,” said Bacon. She and her assistants left.

“You two should get going, as well,” said Klimus to Pierre and Molly.

“Go out to dinner; keep yourselves occupied. I’ll call you tomorrow night.”

The phone rang in Pierre and Molly’s living room at 8:52 the following evening. They looked at each other anxiously, not sure for half a second who should answer it.

Pierre nodded at Molly, and she dived for it, bringing the handset to her face. “Hello?” she said. “Yes? Really? Oh, that’s wonderful! That’s marvelous! Thank you, Burian. Thank you so much! Yes, yes, tomorrow.

We’ll be there at eight. Thanks a million! See you then.”

Pierre was already on his feet, his arms around his wife’s waist from behind. She put down the handset. “We’ve got seven fertilized eggs!” she said.

Pierre turned her around and kissed her passionately. Their tongues danced for a while, and his hands fondled her breasts. They collapsed back down on the couch, making wild, hot love, first licking and kissing each other, she taking him into her mouth, he lapping at her, and then, of course, the most important of all, driving his penis into her, pounding, pounding, as if to propel his own sperm through her blocked fallopian tubes, and at last exploding in orgasm, after which the two of them lay spent, cuddling together.

Pierre knew that for the rest of his life, he would think of that spectacular lovemaking session as the real moment his child had been conceived.

Craig Bullen came into the ultramodern office on the thirty-seventh floor of the Condor Health Insurance Tower in San Francisco. Sitting at his desk as he had every weekday for the past four decades was Abraham Danielson, the founder of the company. Bullen had mixed feelings about the old man. He was a crusty bastard, to be sure, but he had handpicked Bullen fifteen years ago, when Bullen had graduated from the Harvard Business School. “You’re the most rapacious kid I’ve seen in years,”

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