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  本文選題：先天性甲狀腺功能減退癥　切入點：甲狀腺腫大　出處：《青島大學(xué)》2012年碩士論文　論文類型：學(xué)位論文

【摘要】：目的研究青島地區(qū)先天性甲狀腺功能減退(CH)伴甲狀腺腫大患兒中甲狀腺球蛋白(TG)基因的突變類型及特點,為基因診斷及早期治療提供理論依據(jù)。方法研究對象共10例,均為在青島市新生兒篩查中心,經(jīng)篩查確診為先天性甲狀腺功能減退伴甲狀腺腫大的患兒,平均年齡8.7±2.3歲,男3例,女7例,99mTc甲狀腺掃描或甲狀腺B超檢查示甲狀腺位置正常且甲狀腺腫大患兒,且無甲狀腺疾病家族史者。取其外周血并提取基因組DNA,采用聚合酶鏈反應(yīng)(PCR)擴增TG基因全部外顯子以及外顯子與內(nèi)含子結(jié)合區(qū),利用DHPLC(變性高效液相色譜技術(shù))高通量多態(tài)/突變篩選平臺,對TG基因的PCR產(chǎn)物進行基因突變篩查,并對DHPLC分析后顯示異常峰型的TG-PCR片段進行直接測序,驗證突變位點或單核苷酸多態(tài)性位點,并通過生物信息學(xué)對突變位點進行分析,研究TG基因突變導(dǎo)致先天性甲減的可能機制。結(jié)果在試驗組中進行TG基因突變篩查,共發(fā)現(xiàn)1種TG基因復(fù)合雜合突變(c.2687GA/c.7006CT,p.R877Q/p.R2317X)及2種單核苷酸多態(tài)性位點(c.2182TG,c.2334TC)。結(jié)論經(jīng)過對10名先天性甲減伴甲狀腺腫大患兒進行TG基因突變篩查,共發(fā)現(xiàn)1種TG基因復(fù)合雜合突變及2種單核苷酸多態(tài)位點,表明青島地區(qū)先天性甲減伴甲狀腺腫大患者中TG基因突變率較低。
[Abstract]:Objective to study the type and characteristics of TGG gene mutation in children with congenital hypothyroidism and goiter in Qingdao, and to provide theoretical basis for gene diagnosis and early treatment. All of them were diagnosed as congenital hypothyroidism with goiter in Qingdao Neonatal screening Center. The average age was 8.7 鹵2.3 years old. Thyroid scan or B-mode ultrasonography showed normal thyroid position and goitre in 7 women. All exons of TG gene and the binding region between exon and intron were amplified by polymerase chain reaction (PCR). Using the high throughput polymorphic / mutation screening platform of denaturing high performance liquid chromatography (DHPLC), the PCR products of TG gene were screened for gene mutation, and the TG-PCR fragments with abnormal peak type were sequenced directly by DHPLC analysis. The mutation sites or single nucleotide polymorphisms were verified, and the mutation sites were analyzed by bioinformatics to study the possible mechanism of TG gene mutation leading to congenital hypothyroidism. A combined heterozygous mutation of TG gene was found in 10 children with congenital hypothyroidism associated with thyroid enlargement, and two single nucleotide polymorphisms (SNPs) were found in 10 children with congenital hypothyroidism associated with thyroid enlargement, and two single nucleotide polymorphic loci (SNP) were found in the total of c. 2687GA / c. 7006CTP p.R877Qp. R2317X. conclusion 10 children with congenital hypothyroidism and thyroid enlargement were screened for TG gene mutation. A combined heterozygous mutation of TG gene and two single nucleotide polymorphic loci were found, which indicated that the mutation rate of TG gene was lower in patients with congenital hypothyroidism and goiter in Qingdao area.
【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】：2012
【分類號】：R725.8

【共引文獻】

相關(guān)期刊論文 前1條

1 陳瑞芳;楊菁巖;;先天性甲狀腺功能減退癥的基因研究[J];國際內(nèi)分泌代謝雜志;2006年05期

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本文編號：1630340