The causative gene of punctate palmoplantar keratoderma and its application
A keratosis and gene technology, applied in the fields of molecular genetics, disease diagnosis and treatment, can solve problems such as failure to finally identify the causative gene of PPPK
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Embodiment 1
[0090] Embodiment 1. Identification of PPPK pathogenic gene
[0091] The family PPPK703 used in this study has four generations and 33 members, including 9 patients (4 males and 5 females). The clinical manifestations of all patients were round or oval keratin papules on the palms and soles, and the number of skin lesions increased significantly with age. All family members participating in the study have been carefully checked by professional dermatologists, and there is no missed or misdiagnosed phenomenon.
[0092] The pedigree of the family PPPK703 is as follows figure 1 shown. It can be seen from the pedigree that PPPK disease conforms to an autosomal dominant inheritance pattern. In addition, we also noticed the following: 1) The age of onset of previously reported PPPK disease is usually between 12 and 33 years [15], however, the family we studied showed that the age of onset can be between 10 and 35 years 2) In the PPPK703 family, we observed that the disease age o...
Embodiment 2
[0113] Example 2. Verification of PPPK pathogenic gene
[0114] In order to prove the reliability of the results of Example 1, we used the Sanger sequencing method to carry out verification within the family and normal population.
[0115] Intrafamily Verification
[0116] We performed intra-family validation (i.e., Sanger sequencing of these affected individuals) in another 4 patients (II3, III4, III7, and III17) and 6 controls (II1, II5, II7, II9, III18, and IV1) of the PPPK703 family. The COL14A1 gene of the test subject was accurately sequenced). The results showed that the same missense mutation (c.4505C->T; p.Pro1502Leu) existed in the genomes of these 4 patients, but this mutation did not exist in the normal controls in the 6 families.
[0117] The Sanger sequencing method used is outlined below.
[0118] 1. Sample preparation
[0119] After informed consent of the subjects, 5 mL of peripheral venous blood was collected and placed in EDTAk3 (or EDTANa4) anticoagul...
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