Product for detecting microdeletion of chromosome 16p11.2
A technology of microdeletion and chromosome, applied in the field of molecular genetics, can solve the problem of undetectable karyotype analysis
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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] rs12...
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 SEQIDNO.1, the downstream primer sequence is shown in SEQIDNO.2; rs12596308: the upstream primer sequence is shown in SEQIDNO.3, the downstream primer sequence is shown in SEQIDNO.4; rs7205278: the upstream primer sequence is shown in As shown in SEQIDNO.5, the downstream primer sequence is shown in SEQIDNO.6; rs235659: the upstream primer sequence is shown in SEQIDNO.7, the downstream primer sequence is shown 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 SEQIDNO.1, the downstream primer sequence is shown in SEQIDNO.2; rs12596308: the upstream primer sequence is shown in SEQIDNO.3, the downstream primer sequence is shown in SEQIDNO.4; rs235659: the upstream primer sequence is shown in As shown in SEQIDNO.7, the downstream primer sequence is shown in SEQIDNO.8; rs4788186: the upstream primer sequence is shown in SEQIDNO.9, the downstream primer sequence is shown in SEQIDNO...
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