Maternal amniotic fluid phenylalanine detection method for phenylketonuria (PKU) antenatal diagnosis

A technology for phenylketonuria and phenylalanine, which is applied in the field of detection of phenylalanine in maternal amniotic fluid, and can solve problems such as inability to diagnose fetuses

Inactive Publication Date: 2012-07-25
郭健
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, this detection and diagnosis method cannot diagnose the fetus, and it cannot avoid the birth of a fetus with congenital amino acid metabolism disorder.

Method used

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Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0017] Instruments and materials

[0018] Equipment: tandem quadrupole liquid mass spectrometry (LC-MS / MS), cryogenic refrigerator (-80°C), ultrasonic crusher, high-speed refrigerated centrifuge (2,5000 rpm), micropipette.

[0019] Instrument working conditions

[0020] Chromatographic conditions: tandem quadrupole liquid mass spectrometry (LC-MS / MS) 6410B (Agilent, USA), chromatographic conditions: high performance liquid chromatography HP1260 (Agilent, USA), fast analysis column: ZORBAX SB-C 18 (50mm*2.1mm I, d, 1.8μm); mobile phase A: water (containing 0.1% formic acid) 85%, B: acetonitrile 15%; flow rate: 0.2ml / min, column oven temperature 37°C.

[0021] Mass spectrometry conditions: ion source: ESI, positive ion mode; detection method: MRM; gas flow rate: 6L / min; gas temperature: 300°C; Fragmentor: 135; Skimmer: 15; CE: 10V. Quantitative analysis of ion p-phenylalanine (m / z 166-120), labeled phenylalanine (m / z 174-128).

[0022] Reagent materials: pure water, formic ac...

Embodiment 2

[0034] Instrument materials and working conditions are the same as in Example 1.

[0035] Inspection steps:

[0036] A) Collect maternal amniotic fluid in accordance with the relevant regulations stipulated in the "Law of the People's Republic of China on Maternal and Infant Health Care", and store the collected maternal amniotic fluid in a -100°C low-temperature refrigerator. Before the experiment, the samples were thawed in a 5°C incubator, or the collected maternal amniotic fluid was directly frozen to 5°C, and then ultrasonically treated in an ultrasonic cleaner for 10 minutes.

[0037] B) Take 1ml of maternal amniotic fluid after ultrasonic treatment, keep the temperature at 5°C, use a low-temperature high-speed centrifuge at 20,000 rpm / centrifuge for 15 minutes, take 500 μl of maternal amniotic fluid supernatant after centrifugation, filter it with a 0.22 μm filter membrane, and take the filtered After the liquid, the amniotic fluid filtrate to be tested was obtained. ...

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PUM

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Abstract

The invention relates to a technology for diagnosing an amino acid metabolism metabolic disorder disease, and in particular relates to a maternal amniotic fluid phenylalanine detection method for phenylketonuria (PKU) antenatal diagnosis. The method comprises the following steps of: firstly, carrying out ultrasonic treatment, centrifugal treatment and filtering on collected maternal amniotic fluid; taking filtered liquid supernatant as a sample to be tested; and utilizing an internal standard method to detect the content of phenylalanine in amniotic fluid filtering liquid. By analyzing the content of the phenylalanine in the maternal amniotic fluid, whether a fetus in a parent body is a PKU patient or not can be promoted. Therefore, the maternal amniotic fluid phenylalanine detection method reduces the happening of the disease, completely removes the damages of the disease and improves the population quality.

Description

technical field [0001] The invention relates to a diagnosis technology for amino acid metabolic disorders, in particular to a method for detecting phenylalanine in maternal amniotic fluid for prenatal diagnosis of phenylketonuria. Background technique [0002] Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism that seriously threatens human health. It is caused by inborn abnormal metabolism of phenylalanine. The main clinical manifestations are mental retardation, seizures and decreased pigmentation. Because once the disease is formed, it is difficult to cure, people cannot eat normally for life, and even die, so the diagnosis and treatment research of PKU is very important all over the world. Chinese patent application 00819857 discloses a "detection method and detection equipment for congenital metabolic abnormalities", which can diagnose whether they have phenylketonuria by detecting phenylalanine in the blood of newborns. However, this...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G01N33/68
Inventor 郭健郭小帆马瑞忠
Owner 郭健
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