本文選題：先天性甲狀腺功能減退癥 + TTF2�。� 參考：《青島大學(xué)》2016年碩士論文

【摘要】：目的篩查山東地區(qū)先天性甲狀腺功能減退癥(CH)伴甲狀腺發(fā)育不全患兒轉(zhuǎn)錄因子2(TTF2)基因突變的類型及特點,為CH的基因診斷及早期治療提供理論依據(jù)。方法選取2007年至2015山東地區(qū)90例CH伴甲狀腺發(fā)育不全的患兒作為研究對象,分別來自90個無血緣關(guān)系的家庭,其中男29例,女61例,年齡(3.5±0.5)歲。入選標準:出生后2-3天的新生兒取足跟血首先檢測促甲狀腺激素(TSH)濃度作為初篩,若結(jié)果≥20μIU/m L,再檢測靜脈血測促甲狀腺激素(TSH)、游離甲狀腺素(FT4)游離三碘甲狀腺原氨酸(FT3);超聲檢查顯示甲狀腺發(fā)育不全(包括缺如,異位,發(fā)育不良),確診為CH;已排除患有其他先天性疾病。提取其外周靜脈血基因組DNA,采用PCR擴增與直接測序的方法,對TTF2基因外顯子進行突變篩查。結(jié)果90例CH伴甲狀腺發(fā)育不全患者中,發(fā)現(xiàn)1個新的雜合子錯義變體(c.A3401G,p.K1134R),攜帶該突變的患者表現(xiàn)為永久性甲減。同時發(fā)現(xiàn)了1個已知的single nucleotide polymorphisms SNP位點(rs755282859,C.483GA),該患者表現(xiàn)型為輕度的暫時性甲減。結(jié)論在對90例CH伴甲狀腺發(fā)育不全患兒進行TTF2突變篩查中,共發(fā)現(xiàn)了1例新的TTF2變體和1例已知的SNP((rs755282859,C.483GA)。這是首次描述這個變體;TTF2基因在山東地區(qū)先天性甲狀腺功能減退伴發(fā)育不全患者中突變率較低。
[Abstract]:Objective to screen the type and characteristics of TTF2 gene mutation in children with congenital hypothyroidism (Ch) and hypothyroidism in Shandong province, and to provide theoretical basis for the gene diagnosis and early treatment of Ch. Methods from 2007 to 2015, 90 children with Ch associated with hypothyroidism were selected from 90 unrelated families, including 29 males and 61 females aged (3.5 鹵0.5) years. Inclusion criteria: the calcaneal blood samples were taken from the newborns 2-3 days after birth and the thyroid stimulating hormone (TSH) concentration was first detected as a primary screening. If the results were more than 20 渭 IU-mL, thyroid stimulating hormone (TSH), free thyroxine (FT4), free triiodothyronine (FT3) and hypothyroidism (including absence, ectopic) were detected in venous blood. Dysplasia), diagnosed as CH; other congenital diseases have been excluded. The genomic DNA of TTF2 gene was extracted from the peripheral venous blood. The mutation of TTF2 gene exon was screened by PCR amplification and direct sequencing. Results A new heterozygous missense variant (c. A3401G / K1134R) was found in 90 patients with Ch complicated with hypothyroidism. The patient with the mutation presented permanent hypothyroidism. At the same time, a known single nucleotide polymorphisms SNP locus (rs755282859, C.483GA) was found in this patient. The phenotype of the patient was mild transient hypothyroidism. Conclusion A new variant of TTF2 and a known SNP (rs7552859, C.483GA) were found in 90 cases of Ch with hypothyroidism. This is the first time to describe the low mutation rate of TTF2 gene in patients with congenital hypothyroidism and dysplasia in Shandong.
【學(xué)位授予單位】：青島大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2016
【分類號】：R725.8

【參考文獻】

相關(guān)期刊論文 前1條

1 楊榮旺,趙正言;先天性甲狀腺功能減退癥的基因基礎(chǔ)研究進展[J];國外醫(yī)學(xué).內(nèi)分泌學(xué)分冊;2004年S1期

，

本文編號：2064586