Primer, detection kit and method for detecting TERC gene whole exome sequence mutation

Abstract

The invention discloses a method, primer and detection kit for detecting TERC gene whole exome sequence mutation of a dyskeratosis congenita patient. The primer comprises forward and reverse primers amplifying a TERC whole exome sequence and a pair of sequencing primers. According to the method, primer and detection kit for detecting TERC gene whole exome sequence mutation of the dyskeratosis congenita patient, Touch-down PCR amplification and Sanger sequencing are combined so that the mutation situation of the TERC whole exome sequence in the body of the dyskeratosis congenita patient can befast detected, and a TERC gene has two mutation sites of C408G and GC107-108AG.

Description

technical field [0001] The invention belongs to the field of life science and biotechnology, and particularly relates to a primer, a method and a kit for detecting the mutation of the whole exon sequence of TERC gene. Background technique [0002] Dyskeratosis congenita (dskeratosis eongenita, DC) is a bone marrow failure syndrome with genetic heterogeneity, with an incidence of about 1 / 1 million. About 80% to 90% of typical DC patients have the triad of abnormal skin and mucous membranes, which are manifested as reticular pigmentation of the skin, atrophy of the finger (toe) nails, and leukoplakia of the oral mucosa. At present, the mutated genes reported in the literature that can cause DC mainly include CTC1, DKC1, TERC, TERT, TINF2, NHP2, NOP10 and WRAP53. It has been reported in the literature that these genes have three modes of inheritance, which are X-linked recessive inheritance, autosomal recessive inheritance, and autosomal dominant inheritance. However, the gen...

AI Technical Summary

Problems solved by technology

Touch-down PCR amplification can ensure that the combination of the forward and reverse amplification primers and the sample DNA template occurs between the most complementary sequences. When the annealing temperature is reduced to the level where non-specific amplification occurs, the specific amplification product is At this time, there is already a geometric number of initial advantages, and the abundance is high. In the remaining amplification reactions, the specific amplification products compete with the non-specific amplification products, but due to the low abundance of non-specific amplification products , the specific amplification product is always preferentially amplified, resulting in a single dominant specific amplification product

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