Set of Pathogenic Genes of Neuropsychiatric Retardation and Advanced Cognitive Disorder and Detection Primer and Kit Thereof
AssigneeThe First Affiliated Hospital of Dalian Medical University
InventorsJing LIU, Liang WANG, Chengqi XIN, Jingyun MA
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Abstract
A set of pathogenic genes of neuropsychiatric retardation and advanced cognitive disorder, detection primer and kit thereof are provided. By combining the whole-genome sequencing and the next-generation of optical mapping technology, one can determine the mutation sites of SLC16A2, KIF4A, MED15 and FAM83G and five structural variant genes (CT55, DTX2P1-UPK3BP1-PMS2P11, EBF2, FAM173B, FAM173B and TMTC1). The detection of a mutation in said genes can assist in the diagnosis of neuropsychiatric retardation and advanced cognitive disorder.
Claims8
A set of pathogenic genes of neuropsychiatric retardation and advanced cognitive disorder, comprising at least one of the following mutant genes:
- mutant genes of X-linked hereditary SLC16A2 and KIF4A, mutant genes of autosomal recessive hereditary MED15 and FAM83G, and five structural variant genes of CT55, DTX2P1-UPK3BP1-PMS2P11, EBF2, FAM173B and TMTC1.
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