AAGAB gene mutant and its application
A technology of mutants and nucleic acids, applied in the field of AAGAB gene mutants, can solve the problems of type I punctate palmoplantar keratoderma, etc.
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Embodiment 1
[0063] Example 1 Determination of PPKP1 pathogenic genes and pathogenic mutations
[0064] 1. Sample collection
[0065] The inventor selected one of the PPKP1 patient families Family1 collected above (the family map is as follows: figure 2 shown) for exome sequencing studies. Such as figure 2 As shown, there are 6 males, 3 females and 9 patients in this family (the proband is III9), and 16 members with normal performance, and the symptoms are as mentioned above. Histopathological examination of the above nine patients showed that the epidermis was highly hyperkeratotic, the stratum corneum was thickened significantly, the underlying Malpi layer was depressed below the level of the general epidermis, and the granular layer and spinous layer were thickened. Based on the analysis of the patients in this family and the content of PPKP1 patient families previously reported in the literature, the inventor believes that the disease is consistent with autosomal dominant inherita...
Embodiment 2
[0079] Example 2 Sanger method sequencing verification
[0080] Based on the research results of the PPKP1 family Family 1 in Example 1, the family members of the remaining 7 PPKP1 families (Family 2-Family 8) among the PPKP1 cases collected by the inventor (a total of 33 patients in the family, 26 family members internal control) and 28 sporadic cases (sometimes referred to as "Sporadic Patient 1-28" in this paper): primers were designed for all exons of the AAGAB gene, followed by PCR amplification, product purification and The related sequence of AAGAB was obtained by sequencing method, and the correlation between AAGAB gene and type I punctate palmoplantar keratosis was verified according to whether the result of sequence determination was mutant type or wild type.
[0081] The specific method steps are as follows:
[0082] 1. DNA extraction
[0083] According to the method for extracting DNA described in Example 1, the genomic DNA in the peripheral venous blood of the s...
Embodiment 3
[0100] Example 3 Mutation verification for normal people outside the family
[0101] Referring to the method in Example 2, the inventor detected the above six mutation sites of the AAGAB gene on 100 cases of unrelated normal people of the same race (that is, normal people outside the family line), and the results failed to detect the mutation.
[0102] Based on the above results, the inventors determined that the AAGAB gene is the causative gene of type I punctate palmoplantar keratosis, c.552_554TAG>AT, C.535+1G>A, c.755_756insAAGCCAGTCT, c.725T>G of the AAGAB gene , c.352_355delTCTG and c.481C>T mutations are pathogenic mutations of type I punctate palmoplantar keratoderma.
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