3 results about "Enzyme deficiency" patented technology

The present invention relates to methods and compositions for editing an ASL polynucleotide, e.g., an ASL polynucleotide comprising a SNP associated with argininosuccinate lyase deficiency. The invention also relates to methods and compositions for treating or preventing argininosuccinate lyase deficiency in a subject.

This invention discloses a gene editing system for constructing porcine nuclear transplantation donor cells for a metoprolol reductase deficiency model with SPR gene mutations and its applications. The invention provides a kit comprising SPR-gRNA1 (SEQ ID NO: 16), SPR-gRNA4 (SEQ ID NO: 17), and NCN protein. The invention also provides a method for preparing recombinant cells: co-transfecting porcine cells with SPR-gRNA1, SPR-gRNA4, and NCN protein to obtain recombinant cells. The recombinant cells are recombinant cells with a mutated SPR gene. The kit is used for: preparing recombinant cells; preparing porcine metoprolol reductase deficiency models; and preparing metoprolol reductase deficiency cell models, tissue models, or organ models. This invention has significant application value for the development of drugs for metoprolol reductase deficiency and for elucidating the pathogenesis of this disease.

The application discloses a 21-hydroxylase deficiency screening kit and application thereof, relates to the blood analysis technical field, and a steroid hormone marker composition of 21-hydroxylase deficiency, wherein the nine markers comprise 17alpha-hydroxyprogesterone, androstenedione, 11-deoxycortisol, 21-deoxycortisol, cortisol, corticosterone, progesterone, dihydrotestosterone and 11-deoxycorticosterone; the kit can be used for screening 21-hydroxylase deficiency, 11beta-hydroxylase deficiency, 17alpha-hydroxylase deficiency and other types of diseases; the kit comprises detection components for detecting the hormones; compared with a traditional time-resolved fluorescence immunoassay method, the LC-MS / MS multi-index combined detection scheme adopted in the application can significantly reduce false positive results; and invalid recall, unnecessary family anxiety and medical burden caused by false positive results are greatly reduced.