Target gene combination related to gestational age and application thereof

A gene combination and gestational age technology, applied in the biological field, can solve problems such as inaccurate last menstrual period records

Pending Publication Date: 2022-06-07
SUZHOU MUNICIPAL HOSPITAL +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] Aiming at the deficiencies and actual needs of the existing technology, in order to solve the problem of inaccurate last menstrual period records in the process of determining the gestational age and the need for highly skilled personnel to visualize the fetal cerebellum in the middle and late stages of pregnancy during the ultrasound measurement process, the present inv...

Method used

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  • Target gene combination related to gestational age and application thereof
  • Target gene combination related to gestational age and application thereof
  • Target gene combination related to gestational age and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0086] The present embodiment constructs a model for predicting gestational age.

[0087] 1. Acquisition of plasma samples

[0088] In the present embodiment, a total of 148 maternal plasma samples of different pregnancies were obtained, of which 24 volunteers were collected in the second and third trimesters of pregnancy, and the peripheral blood free DNA of these samples was sequenced with high throughput, and the sequencing depth reached more than 4×.

[0089] 2. Analysis of plasma free DNA

[0090] After high-throughput sequencing of plasma free DNA, the sequence is compared with the standard sequence hg19 of the human genome, the position of each sequence on the chromosome of the human genome is determined, and the depth of coverage of 1kb upstream and downstream of each gene pTSS is added and the pTSS of each gene is obtained depth , normalize the TSS of each gene according to the following formula (1) to obtain the characteristics of pTSS of each gene.

[0091] pTSS i norma...

Embodiment 2

[0103] The effect of the model constructed in Example 1 is verified in a sample of 35 examples.

[0104] 1. The steps of plasma sample acquisition and analysis of plasma free DNA are the same as in Example 1.

[0105] 2, the pTSS characteristics of 41 genes obtained in each sample embodiment 1 are extracted, and the gestational age of the sample is predicted using the model constructed in Example 1 as input.

[0106] 3. The effect of the calculation model in verifying the prediction of gestational age in the verification set.

[0107] The gestational age obtained by the last menstrual method was compared with the gestational age predicted by the model, calculating its MAE, RMSE and R 2 , the results are as follows Figure 4 As shown, the average absolute error between the predicted gestational week and the actual gestational week is 4.54 weeks, the mean square root error between the predicted gestational week and the actual gestational week is 6.66 weeks, and the R of the predicted...

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Abstract

The invention discloses a target gene combination related to gestational age and application thereof. Based on the target gene combination, the target gene combination comprises TSPOAP1, CRYAA, CXCL11, FNDC10, HMGA2, FDCSP, OLFM2, KRT36, C13orf46, SCD5, OR12D2, OMP, CEBPE, MOBP, CCNF, FUT2, LIPH, ERICH4, GPR171 and the like. According to the method, the distribution condition of peripheral blood free DNA in some gene transcription start site areas can reflect different gestational weeks, and after the characteristics of the free DNA transcription start site areas are subjected to homogenization correction, a prediction model constructed by using a machine learning algorithm can effectively predict the fetal age of a fetus.

Description

Technical field [0001] The present invention belongs to the field of biotechnology and relates to a combination of target genes associated with gestational age and application thereof. Background [0002] Gestational age refers to the period of time from the time when egg cells and sperm combine into a fertilized egg to when the fetus is born from the mother, in weeks. Accurate determination of gestational age is of great importance in clinical practice: first, the decision whether to manage preterm birth to delay the timing of delivery and whether to induce labor to pregnant women who are past the expected date of delivery depends on accurate gestational age; Improvements in Down syndrome screening rely on accurate gestational age; 3. Accurate gestational age is conducive to monitoring the normal fetal development (organ development map) state using ultrasound or MRI technology; Accurate gestational age is also important to distinguish between caring for growth-restricted infant...

Claims

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Application Information

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IPC IPC(8): C12Q1/6888C12N15/11G06K9/62G06N20/00G16B30/10G16B40/00
CPCC12Q1/6888G16B40/00G16B30/10G06N20/00C12Q2600/166G06F18/2113Y02A90/10
Inventor 乔龙威邢彦如王挺李红孔令印朱利平梁波陈萍张春花吴小娟
Owner SUZHOU MUNICIPAL HOSPITAL
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