Application of RET proto oncogene 634 polymorphism sites in drug preparation

Abstract

The invention belongs to the field of medicine biology, and relates to an application of RET proto oncogene 634 polymorphism sites in preparation of drugs for screening and diagnosis of multiple endocrine neoplasm type 2A. According to the research, DNA is extracted from MEN2A proband peripheral blood karyote, RET proto oncogene hot spot mutation sites are subjected to PCR amplification, direct sequencing is performed, and detection results are that: the pathogenic gene RET gene mutation site of MEN2A is mainly 634 site, the highest proportion of p.C634R (rs75076352) is 42.22%, and the proportion of p.C634Y (rs75996173) is 26.67%, such that the two polymorphism active sites such as the rs75076352 and the rs75996173 are applied in preparation of drugs for screening and diagnosis of multiple endocrine neoplasm type 2A so as to increase multiple endocrine neoplasm type 2A diagnosis rate, and timely treat patients.

Description

technical field [0001] The invention belongs to the field of medical biology, and relates to the application of RET proto-oncogene 634 polymorphism site in the preparation, screening and diagnosis of multiple endocrine tumor type 2A drugs. Background technique [0002] Multiple endocrine neoplasia type 2 (MEN2), also known as Sipple syndrome, was first described by American clinician Sipple in 1961. It is an autosomal dominant genetic disease with high penetrance and an incidence of about 1 / 30000. According to clinical manifestations, MEN2 is clinically divided into three subtypes: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC, Familiar Medullary Thyroid Carcinoma). Among them, MEN2A is the most common, accounting for about 75% of MEN2, with medullary thyroid carcinoma (MTC) as the main clinical manifestation, about 90% of MEN2A carriers have medullary thyroid carcinoma, and about 50% are associated with pheochromocytoma (PCC, Pheochromocytoma), 20% to 30% ha...

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Among them, MEN2A is the most common, accounting for about 75% of MEN2, with medullary thyroid carcinoma (MTC) as the main clinical manifestation, about 90% of MEN2A carriers have medullary thyroid carcinoma, and about 50% are associated with pheochromocytoma (PCC, Pheochromocytoma), 20% to 30% have parathyroid hyperplasia or adenoma; MEN2B is the most malignant and least common type among the three types of MEN2, MEN2B does not occur PHPT, but has special developmental defects: such as Musculoskeletal abnormalities (Marfan body type, high arched feet, pectus pectus excavatum, proximal muscle weakness), oral mucosal neuroma, gastrointestinal manifestations such as vomiting, dehydration, feeding difficulties, intestinal obstruction, etc.

[0004] MEN2 is mainly caused by the mutation of the proto-oncogene RET. For the earlier detection of genetic patients, the American Thyroid Association (ATA) recommends RET gene detection for all patients with medullary thyroid carcinoma to distinguish hereditary or sporadic patients. Patients with hereditary MTC can be detected and treated early to benefit more patients, but whether RET screening should also be performed in other tumor components of MEN2 such as PCC and PHPT has not yet been concluded

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