Primer for detecting WRAP53 gene mutation and application of primer

Abstract

The invention discloses a primer for detecting WRAP53 gene mutation of a patient with dyskeratosis congenita and application of the primer. The primer for detecting the WRAP53 gene mutation condition comprises a primer for amplifying a whole exon sequence of the WRAP53 gene as well as a sequencing primer for detecting the gene of WRAP53. By virtue of the primer, the mutation of the whole exon of the WRAP53 gene in the patient with the dyskeratosis congenital can be rapidly detected. A detection result finished by virtue of the primer is accurate, and the mutation condition of the whole exon sequence of the WRAP53 gene in the patient with the dyskeratosis congenital can be rapidly detected, so that the primer has important reference significances on the early intervention and the early treatment.

Description

technical field [0001] The invention relates to the fields of life science and biotechnology, in particular to primers for detecting WRAP53 gene mutations and applications thereof. Background technique [0002] Dyskeratosis congenital (dyskeratosis 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 dominant inheritance, and autosomal recessive inheritance. However, the genetic characteristics of about 50% o...

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