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
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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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