促甲状腺激素TSH受体基因突变同侵袭性垂体瘤的相关性研究

Thyroid hormone TSH receptor gene mutation with invasive pituitary tumor correlation

目的研究TSH受体基因突变同垂体瘤侵袭性的相关性。方法选择24例垂体瘤患者作为研究对象,其中13例侵袭性垂体瘤,11例非侵袭性垂体瘤,另外选择10例正常甲状腺作为对照组。使用苯酚-氯仿-异戊醇法提取基因组DNA,并对基因片段进行聚合酶链反应及DNA序列分析。结果 13例侵袭性瘤中有5例出现变异个体,对其中3例行DNA序列检测,其中1例发现密码子的点突变,2例为碱基插入突变。而非侵袭性垂体瘤组和正常甲状腺组中无突变。3组突变率比较差异有统计学意义(P<0.05)。结论侵袭性垂体瘤中TSH受体基因的突变率要高于非侵袭性垂体瘤,说明TSH受体基因的突变同垂体瘤的侵袭性存在一定相关性。将TSH受体基因可能作为临床诊断判断疗效的新靶点。

Objective To study the TSH receptor gene muta.tion with pituitary tumor invasive correlation. Methods 24 cases of pituitary tumor patients as the research object,which ws divided into two groups, 13 cases of invasive pituitary tumor, 11 cases of noninvasive pituitary tumor,in addition to choose 10 cases of normal thyroid hormone is compared. Using phenol - chloroform - isoamyl alcohol method extracting genome DNA, and the gene fragments polymerase chain reaction restriction fragment length anal-ysis and DNA sequence analysis. Results 13 cases of invasive tumor in 5 cases with individual variation,the three routine DNA se-quence detection,including 1 case found codon point mutation,2 cases of base insertion mutation. And norlinvasive pituitary tumor group no mutation. The chi-square test,two group of mutation rate difference has significant difference. Conclusion in invasive pi-tuitary tumor TSH receptor gene mutation rate than noninvasive pituitary tumor, explain TSH receptor gene mutation with pituitary tumor invasive has some correlations. TSH receptor gene could be used for clinical diagnosis of judging curative effect of the new targets.