Abstract: In recent years, the field of nucleic acid therapeutics has been flourishing, progressively establishing itself as the third generation of drug modalities following small molecules and antibody-based drugs. Artificial intelligence technology based on machine learning is advancing rapidly, which can significantly accelerate the development process of nucleic acid therapeutics. This review provides an overview of the foundational aspects of artificial intelligence algorithms, databases, and characterizations in the field of nucleic acid drug development. It elucidates the advances in the application of artificial intelligence in nucleic acid structural prediction, small nucleic acid drug design, and other research and development phases of nucleic acid therapeutics, aiming to offer some reference for the interdisciplinary development of artificial intelligence and nucleic acid drugs.

OBJECTIVETo analysis the clinic and genotype in two Chinese patients with Dyskeratosis congenita (DC).

METHODSThe two patients were characterized by mucocutaneous abnormalities (abnormal nails, lacey reticular pigmentation, and oral leukoplakia), bone marrow failure. They were diagnosed with DC. DC genes were amplified by polymerase chain reaction (PCR), including DKC1, TERT, TERC, TINF2, NOP10, NHP2, then DNA sequencing was performed for abnormal exons.

RESULTSAn abnormal peak was found in exon 6 of TINF2 gene of the two patients. DNA sequencing showed a 845G→A transition in TINF2 gene in the two patients.

CONCLUSIONWe should think about DC if the young patients with mucocutaneous abnormalities and marrow failure. TINF2 c.845G→A(R282H) does exist in the two patients. It is reported in China for the first time.

Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; Dyskeratosis Congenita ; diagnosis ; genetics ; Exons ; Female ; Humans ; Infant ; Male ; Telomere-Binding Proteins ; genetics

Bone Diseases, Metabolic ; Fractures, Compression/surgery* ; Humans ; Osteoporotic Fractures/surgery* ; Spinal Fractures/surgery* ; Treatment Outcome