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A product for detecting chromosome 16p11.2 microdeletion

A chromosome and microdeletion technology, applied in the field of molecular genetics, can solve the problem of undetectable karyotype analysis

Active Publication Date: 2019-02-26
PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Traditional methods for identifying chromosomal microdeletions include comparative genomic hybridization (CGH) and array-CGH (array-CGH) techniques, and when the missing chromosomal segment is small, it cannot be detected by traditional karyotype analysis

Method used

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  • A product for detecting chromosome 16p11.2 microdeletion
  • A product for detecting chromosome 16p11.2 microdeletion
  • A product for detecting chromosome 16p11.2 microdeletion

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0038] The preferred of the amplification primer used in the direct sequencing method of embodiment 1

[0039] In order to effectively amplify the nucleotide sequence including the SNP site, it is necessary to optimize the primers for each SNP site.

[0040] The primer design considers factors such as primer concentration, ionic strength (sodium ion, magnesium ion, phosphate ion, etc.) aggregation and other factors.

[0041] Three sets of amplification primers were designed for each SNP site, the specific primers are as follows:

[0042] rs3764276: The first set of primers: the upstream primer sequence is shown in SEQ ID NO.1, the downstream primer sequence is shown in SEQ ID NO.2; the second set of primers: the upstream primer sequence 5'-GAAGTCTGTAGGGCCTGATT-3', the downstream primer sequence 5 '-ATTACAGGTGTGAGCCACCG-3'; the third set of primers: the upstream primer sequence 5'-CACTGTGTGCATGGTGTCA-3', the downstream primer sequence 5'GAGCAACATGTGCACAATAG-3';

[0043]rs125...

Embodiment 2

[0090] Example 2 A kit for detecting 0.6Mb microdeletions in the 29.5-30.1Mb ​​region on chromosome 16p11.2

[0091] Include the following components in the test kit of the present embodiment:

[0092] (1)扩增以下SNP位点的引物:rs3764276、rs12596308、rs7205278、rs235659、rs4788186、rs3815822、rs12919612、rs7498372、rs7201384、rs12716972、rs12934406、rs4787488、rs12931955、rs7191849、rs4238959、rs4787492、rs9928448、rs2289292、rs3809624、 rs3809627, rs56369689, rs28529403, rs930392.

[0093] The specific primer sequences are as follows:

[0094] rs3764276: the upstream primer sequence is shown in SEQ ID NO.1, the downstream primer sequence is shown in SEQ ID NO.2; rs12596308: the upstream primer sequence is shown in SEQ ID NO.3, and the downstream primer sequence is shown in SEQ ID NO.4 rs7205278: the upstream primer sequence is shown in SEQ ID NO.5, the downstream primer sequence is shown in SEQ ID NO.6; rs235659: the upstream primer sequence is shown in SEQ ID NO.7, and the downstream primer sequence i...

Embodiment 3

[0101] Example 3 A kit for detecting 0.6Mb microdeletions in the region of 29.5-30.1Mb ​​on chromosome 16p11.2

[0102] Include the following components in the test kit of the present embodiment:

[0103] (1)扩增以下SNP位点的引物:rs3764276、rs12596308、rs235659、rs4788186、rs3815822、rs12919612、rs7498372、rs7201384、rs12716972、rs12934406、rs4787488、rs12931955、rs7191849、rs4238959、rs4787492、rs9928448、rs2289292、rs3809624、rs3809627、 rs56369689, rs28529403, rs930392.

[0104] The specific primer sequences are as follows:

[0105] rs3764276: the upstream primer sequence is shown in SEQ ID NO.1, the downstream primer sequence is shown in SEQ ID NO.2; rs12596308: the upstream primer sequence is shown in SEQ ID NO.3, and the downstream primer sequence is shown in SEQ ID NO.4 rs235659: the upstream primer sequence is shown in SEQ ID NO.7, the downstream primer sequence is shown in SEQ ID NO.8; rs4788186: the upstream primer sequence is shown in SEQ ID NO.9, and the downstream primer sequence is shown ...

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Abstract

The invention discloses a method for detecting microdeletion of 0.6Mb within the area of 29.5-30.1 Mb in a chromosome 16p11.2.According to the detection principle of the method, a small probability event of a genotype homozygous specific product of multiple SNP sites is utilized for judging whether chromosome microdeletion exists or not.The invention also discloses a product for detecting microdeletion of 0.6Mb within the area of 29.5-30.1 Mb in the chromosome 16p11.2.Meanwhile, the product can detect whether an object suffers from congenital scoliosis or not.The detection method and product have a wide clinical application prospect.

Description

technical background [0001] The invention belongs to the field of molecular genetics and relates to a product for detecting chromosome microdeletion. Background technique [0002] Chromosomal microdeletions are genetic diseases with complex clinical manifestations caused by tiny chromosomal aberrations that are difficult to detect by traditional cytogenetic analysis. Aberrations less than 5MB are the most common type of genomic disease. At least 67 species have been found so far, with an incidence rate of 1 / 4000-50000. Common clinical phenotypes include abnormal growth and development, mental retardation, special facial features, internal organ deformities, endocrine abnormalities, and mental behavior changes. [0003] The deletion of about 0.6Mb in the region of 29.5-30.1Mb ​​on human chromosome 16p11.2 is a rare mutation in humans, and its mutation frequency is about 0.02%. This deletion can cause neurodevelopment-related diseases (eg, autism and obesity). Interestingly...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 吴南吴志宏邱贵兴
Owner PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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