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stub1 gene mutant and its application

A technology of mutants and constructs, applied in the fields of application, genetic engineering, plant genetic improvement, etc., can solve problems that need to be further studied

Active Publication Date: 2017-12-19
BGI GENOMICS CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] Therefore, the current research on gonadal hypogenesis combined with cerebellar ataxia, especially the determination of the causative gene, still needs to be further studied

Method used

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Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0065] Example 1 Determining the pathogenic mutation of gonadal dysgenesis combined with cerebellar ataxia

[0066] 1. Sample collection

[0067] The inventor collected a family showing gonadal hypoplasia combined with cerebellar ataxia, the pedigree is shown in figure 2 . Such as figure 2 As shown, ○ indicates a normal female, □ indicates a normal male, ■ indicates a male patient, and ● indicates a female patient.

[0068] The inventors collected peripheral blood samples from the above-mentioned patients with gonadal hypoplasia combined with cerebellar ataxia and normal persons in the family.

[0069] 2. Whole exome sequencing

[0070] The inventor used the NimbleGenSeqCap EZ Human Exome Library v2.0 whole-exon capture platform combined with Solexa high-throughput sequencing technology to analyze two patients and one normal person in the family of patients with gonadal hypogenesis combined with cerebellar ataxia The sequence of the exon region of the STUB1 gene was seq...

Embodiment 2

[0083] Example 2 Sanger method sequencing verification 1

[0084] The STUB1 gene of all family members (including patients and normal people in the family) and 500 normal people outside the family in the family of patients with gonadal hypoplasia combined with cerebellar ataxia described in Example 1 were detected: for the STUB1 gene Primers were designed for the 7 exons, and then STUB1-related sequences were obtained by PCR amplification, product purification, and sequencing. According to the sequence determination results, whether it was mutant or wild type, it was verified that the STUB1 gene was associated with gonadal dysgenesis combined with cerebellar ataxia. Correlations among disorders.

[0085] The specific method steps are as follows:

[0086] 1. DNA extraction

[0087] According to the method for extracting DNA described in Example 1, the genomic DNA in the peripheral venous blood of the subject was extracted and prepared respectively for future use.

[0088] 2....

Embodiment 3

[0120] Example 3 Sanger method sequencing verification 2

[0121] Detect the STUB1 gene of all family members (including patients and normal people in the family) in the family of patients with gonadal hypoplasia combined with cerebellar ataxia described in Example 1: for the c.737C>T mutation of the STUB1 gene Design primers, then obtain STUB1-related sequences by PCR amplification, product purification and sequencing, and verify whether the c.737C>T mutation of the STUB1 gene is associated with gonadal dysgenesis combined with cerebellar ataxia according to whether the sequence determination results are mutant or wild-type Correlations among disorders.

[0122] The specific method steps are as follows:

[0123] 1. cDNA acquisition

[0124] According to the second edition of "Molecular Cloning", RNA was extracted from the peripheral venous blood of the subject within 3 hours, and then, the extracted RNA was reverse-transcribed using a reverse transcription kit (Tiangen) to ...

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Abstract

The invention discloses STUB1 gene mutants and applications thereof, in particular to isolated nucleic acids encoding STUB1 mutants, isolated polypeptides, methods for screening biological samples susceptible to gonadal hypoplasia combined with cerebellar ataxia, and screening for susceptible gonad development A system for biological samples of hypogonadism with cerebellar ataxia, and a kit for screening biological samples for predisposition to gonadal hypogenesis with cerebellar ataxia. Wherein, compared with SEQ ID NO: 1, the isolated nucleic acid encoding the STUB1 mutant has a c.737C>T mutation. By detecting whether the new mutant exists in the biological sample, it is possible to effectively detect whether the biological sample is susceptible to gonadal hypogenesis combined with cerebellar ataxia.

Description

technical field [0001] The present invention relates to STUB1 gene mutant and its application. Specifically, the present invention relates to isolating nucleic acids encoding STUB1 mutants, isolated polypeptides, methods for screening biological samples susceptible to gonadal hypoplasia combined with cerebellar ataxia, and screening biological samples susceptible to gonadal hypoplasia combined with cerebellar ataxia Sample systems, kits, constructs, and recombinant cells for screening biological samples predisposed to gonadal dysgenesis combined with cerebellar ataxia. Background technique [0002] Gonadal hypogenesis combined with cerebellar ataxia is a clinically rare syndrome, which often manifests as a recessive inheritance pattern or sporadic. Insufficiency, infertility, and progressive unsteady walking; 3. It may be combined with other symptoms such as: dementia, retinitis pigmentosa, white matter lesions, damage to the pyramidal tract, deafness, etc., or not combined...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C12N15/63C12N1/21C12N5/10C12Q1/68C12M1/34C07K14/47
Inventor 戴兰兰蒋慧许予明史长河汪建杨焕明
Owner BGI GENOMICS CO LTD
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