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The role of EXT1 gene mutation and its high expression of calcitonin gene-related peptide in the development of multiple exostosis.

Abstract：

OBJECTIVE:Screening and identifying the gene mutation of EXT1, EXT2 and EXT3 associated with multiple exostosis (ME) and the expression in tumor tissues. METHODS:Nine patients with multiple exostosis were collected and genomic DNA was extracted. Polymerase chain reaction (PCR) amplification and direct sequencing techniques were used to screen all exons, 5' and 3' ends of the EXT1, EXT2 and EXT3 related causative genes. EXT1, EXT2 and EXT3 gene were screened and quantified by RNA-SEQ and RT-qPCR. The concentration of calcitonin gene-related peptide (CGRP) in peripheral blood of tumor patients and normal controls was detected by ELISA. RESULTS:Between the two patients with ME, the EXT1 gene was found in one patient to have c.79 T>A mutation, which caused the change of p.M27T, the non polar methionine was replaced by the high frequency mutation of polar threonine, and the rest of patients was found the splicing mutation c.1284 + 8 delAT of the heterozygosity of the EXT1 gene. The serum CGRP concentration of ME patients (623 + 49 pg/ml) was significantly higher than that of normal controls (196 + 68 pg/ml), and EXT1 mutation patients were also higher than non mutation patients.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Wu ZY,Wang Y,Wang JW,Chen YZ,Guo Y

doi

10.1016/j.bbrc.2018.09.115

subject

Has Abstract

pub_date

2018-11-10 00:00:00

pages

959-965

issue

4

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(18)32042-4

journal_volume

505

pub_type

杂志文章

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