Detection kit of gene mutations associated with phenylketonuria

Abstract

The invention discloses a detection kit of gene mutations associated with phenylketonuria. The detection kit comprises ddH2O, 10*buffer (Takara), 2*GC buffer I, dNTP, MgCl2, HSTaq, a multiple PCR mixed primer liquid and an Illumina I5 / I7 primer. The detection kit has a wide detection range, comprehensively detects phenylketonuria caused by five gene defects, sequencing detection is conducted on the upstream 500bp of a genetic transcription start site, 5'UTR, a coding region, 8pp intron sequences of a splice site and transcription terminators, it is predicted that the mutation detection rate can reach 95% or above, and the detection kit can be better applied to clinical practice.

Description

technical field [0001] The invention relates to a detection kit for gene mutation related to phenylketonuria. Background technique [0002] Phenylketonuria (Phenylketonuria, PKU) is one of the most common amino acid metabolic disorders, an autosomal recessive genetic disease. Children with this condition are normal at birth. Symptoms usually appear at 3 to 6 months, and symptoms are obvious at 1 year old, as follows. ① Nervous system: mental retardation is the most prominent, IQ is lower than normal, and there are abnormal behaviors, such as excitement, depression, etc. There may be petit mal seizures, and a few show increased muscle tone and tendon hyperreflexia. ②Skin: After a few months of birth, due to insufficient melanin synthesis, the hair turns from black to yellow, and the skin is fair. Skin eczema is more common. ③Body odor: Due to the excretion of more phenylacetic acid in urine and sweat, there may be obvious mouse urine odor. [0003] Phenylalanine (Phenyl...

AI Technical Summary

Problems solved by technology

Since multiple gene mutations can lead to disease, traditional Sanger sequencing and other technologies are far from meeting the needs of medical research and clinical applications

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