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Phenylketonuria (PKU) screening kit and application thereof to prenatal screening

A technology for phenylketonuria and prenatal screening, which can be used in the determination/examination of microorganisms, biochemical equipment and methods, etc., and can solve problems such as miscarriage, fetal impact, and intrauterine infection

Inactive Publication Date: 2013-09-04
邯郸市康业生物科技有限公司
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] At present, the prenatal diagnosis of phenylketonuria in my country is based on cytogenetic diagnosis based on invasive procedures such as amniocentesis and chorionic villus aspiration. Intrauterine infection, miscarriage, and even affect the fetus

Method used

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  • Phenylketonuria (PKU) screening kit and application thereof to prenatal screening
  • Phenylketonuria (PKU) screening kit and application thereof to prenatal screening
  • Phenylketonuria (PKU) screening kit and application thereof to prenatal screening

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Experimental program
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Embodiment Construction

[0063] (1) Extraction of cell-free fetal DNA from peripheral blood of pregnant women;

[0064] ① Aseptically collect 10 mL of whole blood in 15 mL vacuum EDTA anticoagulant blood collection tubes to avoid hemolysis.

[0065] ②Centrifuge at 800g in a low-temperature centrifuge at 4°C for 10 minutes, and absorb the supernatant.

[0066] ③ Take the supernatant (about 4-5mL of plasma) and transfer it to a new 15 mL polypropylene test tube, centrifuge at 1600g, 4°C for 10 minutes.

[0067] ④ Take 1 mL of the supernatant (2.0 mL new polypropylene test tube), add 1 / 10 volume of proteinase K buffer (10X), pulse shake and mix for 30 seconds; then add proteinase K (proteinase K, 30∪ / mL, no DNase and RNase) to a final concentration of 0.1-1 mg / mL, pulse-shake and mix for 30 seconds.

[0068] ⑤Water at 60°C for 30 minutes, then centrifuge at 16,000g for 10 minutes at 4°C.

[0069] ⑥ Aspirate the supernatant containing free DNA fragments, cool to 4 ℃, add an equal volume of Tris-saturat...

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Abstract

The invention discloses a phenylketonuria (PKU) screening kit and application thereof to prenatal screening, and belongs to the technical field of PKU screening. The application method comprises the following steps of: (1) extracting free fetal DNA (Deoxyribonucleic Acid) from peripheral blood of pregnant women; (2) taking the fetal DNA as a template to carry out polymerase chain reaction (PCR) amplification; (3) detecting a PCR product through agarose gel electrophoresis and purifying the PCR product through enzyme reaction; (4) carrying out sequencing reaction on the purified PCR product; (5) purifying a PCR sequencing reaction product; (6) sequencing the purified PCR sequencing reaction product; and (7) comparing the sequencing result with positive and negative control samples. The kit has the beneficial effects that the kit can achieve automatic sequencing, thus shortening the screening time and enabling PKU screening to be simpler, more convenient and faster; the technical gap of prenatal PKU screening is filled; the birth rate of sick children is reduced; and the kit causes no trauma to the fetuses and is safe and reliable.

Description

technical field [0001] The invention relates to the technical field of phenylketonuria screening. Background technique [0002] Phenylketonuria (PKU) is a genetic metabolic disease, which is due to the decrease in the activity of phenylalanine hydroxylase or the lack of coenzyme tetrahydrobiopterin in the body, which leads to the obstruction of the metabolism of phenylalanine to tyrosine. The concentration of phenylalanine in the blood and tissues increases, and the phenylpyruvate, phenylacetic acid, and phenyllactic acid in the urine increase significantly, so it is called "phenylketonuria". Although this disease is a genetic metabolic disease, it is not uncommon. The prevalence of PKU in my country is about 1:10000, the United States is about 1:14000, Northern Ireland is about 1 / 4400, Germany is about 1:7000, and Japan is about 1:10000. 1:78400. [0003] At present, our country generally adopts the newborn disease screening method for phenylketonuria, that is, to screen n...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
Inventor 王瑞晓
Owner 邯郸市康业生物科技有限公司
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