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Early-onset diabetes gene mutant and applications thereof

A diabetes and gene technology, applied in the field of medical molecular biology, can solve the problems of diagnosis deviation and poor treatment effect, and achieve the effect of high early diagnosis rate

Active Publication Date: 2016-01-20
XINJIANG MEDICAL UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Diagnostic bias is one of the main causes of poor treatment outcomes at present

Method used

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  • Early-onset diabetes gene mutant and applications thereof
  • Early-onset diabetes gene mutant and applications thereof
  • Early-onset diabetes gene mutant and applications thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0037] Example 1 Early onset diabetes gene mutant

[0038] According to the first aspect of the present invention, the present invention provides an early-onset diabetes gene mutant nucleic acid. According to an embodiment of the present invention, compared with the sequence of the existing wild-type early-onset diabetes gene, the nucleic acid has a c.10006A>G mutation. And compared with the sequence of the existing wild-type early-onset diabetes protein, the serine S at position 3336 of the encoded protein of the PCR amplification product is mutated to glycine G, and the nucleotide sequence of the encoded protein of the PCR amplification product is as shown in SEQ ID NO.2 As shown, the p.S3336G mutation exists.

Embodiment 2

[0039] The detection method of embodiment 2 premature diabetes

[0040] 1. Sample preparation

[0041] Collect peripheral blood of family members, extract genomic DNA from peripheral blood leukocytes, use Nanodrop8000 to measure DNA OD value, extract 1-2μl samples for detection on NanoDrop8000, record sample concentration, OD 260 / 280 and OD 260 / 230 ratio and other information. OD of genomic DNA of each sample obtained 260 / OD 280 They are all located between 1.8-2.0, the concentration is 50-200ng / ul, and the total amount is not less than 3μg.

[0042] 2. Disease mutation gene detection

[0043] The members of the family, including 6 patients and their 7 normal family members, were tested for the MDN1 gene, and primers were designed for the MDN1 sequence, and MDN1-related sequences were obtained by PCR amplification, product purification, and sequencing. According to the sequence determination results Whether it is mutant or wild type, verify the correlation between MDN1 ...

Embodiment 3

[0060] Example 3 System for Screening Biological Samples Susceptible to Premature Diabetes

[0061] Such as Figure 4 to Figure 6 It can be seen that the system for screening biological samples susceptible to premature diabetes includes the nucleic acid extraction device 100 , the nucleic acid sequence determination device 200 and the judging device 300 .

[0062] According to an embodiment of the present invention, the nucleic acid extraction device 100 is used to extract nucleic acid samples from biological samples. As mentioned above, according to the embodiment of the present invention, the type of nucleic acid sample is not particularly limited. For using RNA as a nucleic acid sample, the nucleic acid extraction device further includes an RNA extraction unit 101 and a reverse transcription unit 102, wherein the extraction unit 101 is used to extract RNA samples from biological samples, and the reverse transcription unit 102 is connected to the RNA extraction unit 101, an...

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Abstract

The invention discloses an early-onset diabetes gene mutant, of which the nucleotide sequence is shown in SEQ ID NO.1. The invention also discloses an early-onset diabetes gene mutant encoded protein, of which the amino acid sequence is shown in SEQ ID NO.2. The invention also discloses a system for screening biological samples susceptible to early-onset diabetes, and according to the invention, a new virulence gene of early-onset diabetes (mody) is found. On the basis, the system can be used for early screening virulence mutant gene carriers of early-onset diabetes (mody), and then the carriers can be subjected to early intervention treatment before catching the early-onset diabetes; and the system also can be applied to the molecular diagnosis of patients with early-onset diabetes and the differential diagnosis of related diseases. The technique has the advantages of rapidness, accuracy, high efficiency, simplicity, convenience, high early diagnostic rate and the like, and detection results can provide a scientific basis for the early diagnosis and differential diagnosis of early-onset diabetes (mody) and the development of medicaments for the treatment of early-onset diabetes (mody).

Description

technical field [0001] The invention belongs to the technical field of medical molecular biology, and specifically relates to an early-onset diabetes gene mutant. The present invention also relates to a protein encoded by an early-onset diabetes gene mutant. The present invention also relates to an application of an early-onset diabetes gene mutant. . Background technique [0002] Maturity-onset-diabetes of the young (MODY) is a single-gene dominant genetic disease, which was considered a special subtype of T2DM in the past, but is now classified as a special type of diabetes. The diagnosis of MODY should meet the following conditions: ①Onset before the age of 25; ②At least 2 patients in the family; ③At least three generations of autosomal dominant inheritance; ④Oral hypoglycemic drugs have been effective for at least 5 years or have normal plasma C-peptide levels. [0003] With the development of technologies such as genetic linkage analysis, candidate gene cloning, associ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/47C12M1/34C12Q1/68C12N15/63C12N5/10A01K67/027
Inventor 帕它木·莫合买提哈木拉提·吾甫尔戴兰兰伊力哈木江·依马木热沙来提·阿不都瓦衣特张建国方明艳木哈达斯·吐尔逊依明托兰古丽·买买提库尔班祖力卡提阿依·阿布都拉
Owner XINJIANG MEDICAL UNIV
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