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Amplification composition for detecting numerical abnormalities of chromosomes and fast detection kit

A technology of chromosome number and detection kit, applied in the field of molecular biology, can solve the problems of high requirements for operators, relying on the accumulation of manual analysis experience, and high cost

Inactive Publication Date: 2018-11-23
杭州金诺医学检验实验室有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

This method is accurate and reliable, but it requires cell culture, a long detection period (2-3 weeks), complicated operation, and many limitations such as relying on manual analysis and experience accumulation.
Another commonly used clinical t

Method used

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  • Amplification composition for detecting numerical abnormalities of chromosomes and fast detection kit
  • Amplification composition for detecting numerical abnormalities of chromosomes and fast detection kit
  • Amplification composition for detecting numerical abnormalities of chromosomes and fast detection kit

Examples

Experimental program
Comparison scheme
Effect test

Example Embodiment

[0110] Example 1: The present invention is applied to the detection of aneuploidy abnormalities of 21, 18, and 13 of various types of samples and sex chromosomes

[0111] 1. Nucleic acid extraction

[0112] (1) DNA extraction from fetal villi tissue

[0113] Put the aborted tissue in a petri dish, pour in saline and wash it several times; after washing, pour in saline and spread over the tissue, you can see white, hairy villi. If you can’t see it, you need to cut the gestational sac. , Carefully select the villi; cut a certain amount of villi and put them in a new petri dish filled with physiological saline. Observe under the microscope, the normal villi appear hollow, branch-like, and have protrusions on the branches under the microscope; select The villous tissue afterwards was extracted with DNeasy Blood&Tissue Kit (QIAGEN, catalog number 69504). Finally, Nanodrop2000 was used to determine the concentration and purity of DNA.

[0114] (2) Amniotic fluid DNA extraction

[0115] Cen...

Example Embodiment

[0134] Example 2: Rapid prenatal diagnosis of target chromosomal abnormalities and triploid abnormal syndromes using the present invention

[0135] 158 samples of fetal amniotic fluid and villi from unexplained recurrent miscarriage were used, of which 10-20ml of amniotic fluid and 10-25mg of villi were used. The detection and result analysis were carried out according to the experimental method finally determined in Example 1. The present invention detected 6 cases of trisomy 21, 2 cases of trisomy 18, 4 cases of trisomy 13, 16 cases of 45,X, and 15 cases of triploid (69,XXY / 69XXX) in 158 samples. At the same time, chromosome chip analysis was used to verify the results, which proved that the detection accuracy of this method was 100%.

[0136] According to the diagnostic criteria of abnormal number of chromosomes: each chromosome has at least 2 or more STR loci with abnormal peaks before the corresponding chromosome abnormality can be diagnosed.

[0137] For trisomy 21, the four S...

Example Embodiment

[0141] Example 3: Calculating the ratio of maternal cell mosaicism

[0142] If red blood contamination is visible to the naked eye after centrifugation of the amniotic fluid specimen, the amniotic fluid specimen and the peripheral blood specimen of the pregnant woman must be tested at the same time to determine whether there is maternal cell contamination; all the villus specimens must be tested simultaneously with the fetal specimen and the peripheral blood specimen of the pregnant woman to exclude Contamination of maternal cells. According to the calculation basis of the chimera: divide the peak area of ​​the allele specific to the mother in the flow product STR locus by the area of ​​the heterozygous peak (the peak overlapping between mother and child). Take any 3-5 STR loci and calculate the average value. Such as Picture 12 As shown, the ratio of maternal cell mosaicism is: (3092 / 10770+5608 / 21368+3893 / 19388) / 3=25%.

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Abstract

The invention belongs to the field of molecular biology, and particularly relates to an amplification composition for detecting numerical abnormalities of chromosomes and a fast detection kit. The amplification composition is designed by mainly aiming at clinic diagnosis of 18 trisomy, 13 trisomy and sex chromosome aneuploidy anomaly of Chinese people groups. Compared with the exiting invention orsimilar kind of kit, the kit provided by the invention has the advantages that 1, the detection flux is high; 2, the detection period is short; 3, the sensitivity is high; 4, the accuracy is high; 5,in prenatal diagnosis, the mother body pollution can be eliminated; in the system, the STR site polymorphism is high; according to the STR product size, whether the sample is from the same mother body or not can be judged; the problem of mother body cell pollution is avoided; 6, the better inspection rate is realized on chimeras.

Description

technical field [0001] The invention belongs to the field of molecular biology, and in particular relates to an amplification composition and a rapid detection kit for detecting abnormal chromosome number. Background technique [0002] Chromosomal disease is a common type of genetic disease that causes birth defects, accounting for about 1 / 120-1 / 150 of live births, mainly manifested as abnormal chromosome number and abnormal chromosome structure. Chromosomal aneuploidy refers to the abnormal number of chromosomes formed by the increase or decrease of individual chromosomes in cells. Affected children usually have clinical manifestations such as mental retardation, organ deformities, or abnormal development of secondary sexual characteristics, which bring heavy mental and economic burdens to families and society. [0003] The most common chromosomal aneuploidies include Down's syndrome 21, Edward syndrome 18, Patau syndrome 13, 45,X (Turner syndrome), 47 , XXY (Klinefelter ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/16
Inventor 梁丹军耿娟郑昭璟
Owner 杭州金诺医学检验实验室有限公司
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