本文關(guān)鍵詞：DNA聚合酶基因在共濟(jì)失調(diào)毛細(xì)血管擴(kuò)張癥家系突變狀態(tài)的研究　出處：《檢驗(yàn)醫(yī)學(xué)與臨床》2017年07期 　論文類(lèi)型：期刊論文

  更多相關(guān)文章： 共濟(jì)失調(diào)毛細(xì)血管擴(kuò)張癥 DNA聚合酶基因 家系 基因突變 基因表達(dá)

【摘要】：目的通過(guò)對(duì)一個(gè)基因損傷修復(fù)缺陷性疾病共濟(jì)失調(diào)毛細(xì)血管擴(kuò)張癥(AT)家系DNA聚合酶基因突變分析,初步觀察其穩(wěn)定突變位點(diǎn),為上述疾病易感基因風(fēng)險(xiǎn)突變位點(diǎn)的進(jìn)一步確定奠定基礎(chǔ)。方法對(duì)該家系先征者DNA聚合酶基因家族,polA、polB、polD1、polD2、polE1、polG測(cè)序,檢測(cè)突變位點(diǎn),分析并篩選有意義突變位點(diǎn);對(duì)該家系成員在先征者有意義突變區(qū)域直接測(cè)序。結(jié)果 AT家系患兒DNA聚合酶基因無(wú)外顯子突變,但在polE1 12p24.3 132696619AG,該突變位置處于該基因的3′UTR下游;家系中患兒的母親、外祖母及舅舅發(fā)生12p24.3 132696619AG。結(jié)論 AT家系先證者在DNA聚合酶基因外顯子沒(méi)有檢測(cè)到突變位點(diǎn),但在3′UTR位置檢測(cè)到一個(gè)有意義突變位點(diǎn),在家系成員中亦有突變,其可能為AT疾病的穩(wěn)定突變位點(diǎn)。
[Abstract]:Objective to investigate the stable mutation of DNA polymerase gene in a family of ataxia capillary dilatation (ATA). Methods the DNA polymerase gene family of this family was poled to polD1 polD2. PolE1G was sequenced, mutation sites were detected, and meaningful mutation sites were analyzed and screened. The significant mutation region of this family member was directly sequenced. Results there was no exon mutation of DNA polymerase gene in AT pedigrees. However, in polE1 12p24.3 132696619AG, the mutation was located downstream of the gene. There were 12p24.3 132696619AG in the mothers, grandmothers and uncles of the children in the family. Conclusion No mutation site was detected in the exon of DNA polymerase gene in the proband of AT pedigree. However, a significant mutation site was detected at the 3U UTR site, and there was also a mutation in the family members, which may be a stable mutation site for AT disease.
【作者單位】： 首都醫(yī)科大學(xué)宣武醫(yī)院檢驗(yàn)科;
【分類(lèi)號(hào)】：R596;R440
【正文快照】： 共濟(jì)失調(diào)毛細(xì)血管擴(kuò)張癥(AT)是一種累及神經(jīng)、皮膚、血管、內(nèi)分泌系統(tǒng)、網(wǎng)狀內(nèi)皮系統(tǒng)等的罕見(jiàn)常染色體隱性遺傳病,發(fā)病率約為1∶100 000~1∶40 000[1]。AT累及多器官、多系統(tǒng),并且有腫瘤易感性、基因組不穩(wěn)定性、輻射敏感性、免疫缺陷、進(jìn)行性小腦退變及性腺萎縮等諸多特點(diǎn)。

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1 張俊紅;家蠶細(xì)小病毒樣病毒（中國(guó)株）DNA聚合酶基因的克隆與表達(dá)[D];江蘇大學(xué);2010年

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