Product for Diagnosing Congenital Scoliosis and Application Thereof
OwnerNan Wu, Zhihong Wu +1inventors
InventorsNan Wu, Zhihong Wu, Guixing Qiu
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Abstract
The present invention discloses a method for diagnosing congenital scoliosis of an individual, comprising: detecting whether a chromosome 16p11.2 region has a nucleotide sequence microdeletion of 0.6 Mb in length, or detecting whether a TBX6 gene has a frameshift mutation; and detecting a haplotype of two SNP sites of rs3809624-rs3809627 in the TBX6 gene located on another homologous chromosome. The diagnostic method of the present invention can be judged early in the congenital scoliosis and is suitable for clinical promotion.
Claims12
A method for diagnosing congenital scoliosis of an individual, comprising:
- detecting whether a chromosome 16p11.2 region has a nucleotide sequence microdeletion of 0.6 Mb in length, or detecting whether a TBX6 gene has a frameshift mutation;
- and
- detecting a haplotype of two SNP sites of rs3809624-rs3809627 in the TBX6 gene located on another homologous chromosome;
- if a microdeletion of 0.6 Mb in length exists in the chromosome 16p11.2 region, meanwhile the haplotype of two SNP sites of rs3809624-rs3809627 in the TBX6 gene located on the another homologous chromosome without 16p11.2 microdeletion is C-A, the individual is diagnosed as a patient with congenital scoliosis;
- if the TBX6 gene in the chromosome 16p11.2 region has the following single nucleotide insertion and double nucleotide deletion:
- one or more of nucleotide shift mutations caused by c.1248-1249insT, c.263-264insC, c.697-698insG, c.1167-1168insC, c.1179-1180delAG, and the haplotype of two SNP sites of rs3809624-rs3809627 in the TBX6 gene located on the homologous chromosome without frameshift mutations is C-A, then the individual is diagnosed as a patient with congenital scoliosis.
The method according to claim3, wherein the use of sequencing to detect whether a TBX6 gene has a frameshift mutation requires amplification primers and sequencing primers, the amplification primers are as follows:
- forward primer 5′-TAGGGAGAGGGCTCTGTTCTCATGG-3′ (SEQ ID NO:
- 18);
- reverse primer 5′-GCGTCCCAGGGAGGCAACCG-3′ (SEQ ID NO:
- 19);
- the sequencing primers are as follows:
- 5′-CTCGAAGGGGTCCGAGAGG-3′ (SEQ ID NO:
- 11), 5′-CTCCTTCCATAGCTCCCGGT-3′ (SEQ ID NO:
- 12), 5′-GTTGCATACTGATCCCGAAT-3′(SEQ ID NO:
- 13), 5′-CTGCCCGAACTAGGTGTATG-3′ (SEQ ID NO:
- 14), 5′-AATGGCTTCCTAACAGATGAC-3′ (SEQ ID NO:
- 15), 5′-GAGCGGGAGGTTTGTGATG-3′ (SEQ ID NO:
- 16), 5′-GGCAGCTGGAAACACAGGT-3′ (SEQ ID NO:
- 17).
A diagnostic kit for congenital scoliosis, comprising:
- an agent for determining whether a chromosome 16p11.2 region has a nucleotide sequence microdeletion of 0.6 Mb in length, or determining whether a TBX6 gene has a frameshift mutation, and determining the haplotype of two SNP sites of rs3809624-rs3809627 in the TBX6 gene located on another homologous chromosome;
- the frameshift mutation of the TBX6 gene is selected from the following single nucleotide insertions and dinucleotide deletions:
- one or more of nucleotide shift mutations caused by c.1248-1249insT, c.263-264insC, c.697-698insG, c.1167-1168insC, c.1179-1180delAG.
Dependencies are inferred from the claim text.