Method for detecting abnormal numbers of five chromosomes

A chromosome number and chromosome technology, applied in the field of detection, can solve the problems of high technical requirements, high fees, and long time consumption, and achieve the effects of low cost, short time consumption, high sensitivity and accuracy

Active Publication Date: 2013-05-01
NINGBO HEALTH GENE TECHNOLOGIES CO LTD
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Problems solved by technology

The disadvantage of karyotype analysis is that it takes a long time...

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  • Method for detecting abnormal numbers of five chromosomes
  • Method for detecting abnormal numbers of five chromosomes
  • Method for detecting abnormal numbers of five chromosomes

Examples

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Embodiment 4

[0068] figure 1 Case analysis of chromosomal aneuploidy. The results of GeXP capillary electrophoresis analysis of the DNA samples (50-100ng) shown in the figure are from top to bottom: normal female DNA sample; monosomy of chromosome X; trisomy of chromosome 13; trisomy of chromosome 18 and chromosomal 21 Chromosome trisomy. Chromosomal aneuploidy can be detected by quantitative analysis. For example, by observing the relative height of the specific peaks of each chromosome in the black box, it can be clearly shown that the difference in peak height corresponds to chromosome aneuploidy or sex; in addition, by comparing and calculating the relative peak area of ​​each specific peak of each chromosome, the chromosome can be more accurately displayed Aneuploidy (see "Example 4, Data Analysis")

[0069] figure 2 Quantitative analysis of chromosome number in normal samples. The relative copy number of each gene (primer pair) on each chromosome (chromosomes 13, 18 and 21) rep...

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Abstract

The present invention relates to a method for detecting abnormal numbers of five chromosomes, wherein the method is provided for concurrently detecting aneuploidy of numbers of five chromosomes such as chromosome 21, chromosome 13, chromosome 18, chromosome X and chromosome Y, and comprises: (1) respectively selecting 7 genes from the five chromosomes, and designing 38 pairs of primers based on the selected genes; (2) adopting combinations of the primers to carry out multiplex PCR and capillary electrophoresis; and (3) adopting a software to analyze electrophoresis results.

Description

technical field [0001] The invention relates to a detection method, in particular, the invention relates to a method for detection of abnormal number of five chromosomes. Background technique [0002] Trisomy 21, also known as Down syndrome or congenital stupidity, is an autosomal aberration and is the most common type of chromosomal disease in children. The incidence rate among live babies is about 1 / (600-800). The higher the incidence of the disease. About 60% of the children died in early fetal abortion. Trisomy 21 can cause learning disabilities, intellectual disabilities, and disabilities. In addition, aneuploidies of chromosomes 13, 18, X, and Y lead to Patau syndrome, Edwards syndrome, Klinefelter syndrome, and Turner syndrome, respectively. The disease can cause abnormal development and other pathological changes in the human body to varying degrees. Once a child is born, it will bring great pain to the family and a heavy burden to the society. [0003] At prese...

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Application Information

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IPC IPC(8): C12Q1/68
Inventor 吴勇徐冰
Owner NINGBO HEALTH GENE TECHNOLOGIES CO LTD
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