本文選題：常染色體顯性視網(wǎng)膜色素變性　切入點(diǎn)：視紫紅質(zhì)基因　出處：《安徽醫(yī)科大學(xué)》2010年碩士論文　論文類型：學(xué)位論文

【摘要】： 目的(1)對一個(gè)RHO基因突變的中國人常染色體顯性遺傳視網(wǎng)膜色素變性(autosomal dominant RP, adRP)家系進(jìn)行基因定位和突變研究(2)研究其臨床表型特征和分析該家系基因突變與臨床表型的關(guān)系。 方法(1)收集一大的常染色體顯性遺傳的視網(wǎng)膜色素變性的家系,在獲得知情同意的前提下對該家系的RP患者進(jìn)行了病史采集,視力,視野,眼底檢查,部分患者行視網(wǎng)膜電流圖(ERG),眼底熒光血管造影(FFA),光學(xué)相干斷層成像(OCT)檢查。(2)抽取家系成員外周靜脈血并提取DNA,并對該家系進(jìn)行ADRP候選基因定位和定位區(qū)域候選基因突變檢測。 結(jié)果(1)該視網(wǎng)膜色素變性家系共5代,有32名成員,其中男性16例,女性16例,患者共12例,其中男性患者6例,女性6例,符合常染色體顯現(xiàn)性遺傳模式。家系的臨床特點(diǎn)為發(fā)病早,病情發(fā)展迅速,病情較嚴(yán)重�；颊�1-2歲左右即被發(fā)現(xiàn)有夜盲,這是目前報(bào)道的RP家系中夜盲發(fā)生最早的病例�；颊弑憩F(xiàn)進(jìn)行性的眼底骨細(xì)胞樣色素沉著,視野縮小,ERG顯示a,b波幅明顯下降甚至熄滅,50歲左右失明;(2)通過對已知ADRP候選基因的連鎖分析,結(jié)果提示該家系候選基因定位于第3號(hào)染色體RHO基因區(qū)域; RHO基因序列分析顯示第2外顯子編碼區(qū)第512個(gè)堿基出現(xiàn)突變(512CT,p.P171L)。 結(jié)論(1)視紫紅質(zhì)基因突變(P171L)是該常染色體視網(wǎng)膜色素變性家系的致病基因。(2)該常染色體視網(wǎng)膜色素變性家系的視紫紅質(zhì)基因突變(P171L)導(dǎo)致了嚴(yán)重的臨床表型。
[Abstract]:Objective 1) to study the clinical phenotypic characteristics of a Chinese autosomal dominant retinitis pigmentosa (dominant) family with RHO gene mutation and to analyze the relationship between the gene mutation and the clinical phenotype. Methods A large pedigree with autosomal dominant retinitis pigmentosa was collected, and the history of history, visual acuity, visual field, and fundus examination of RP patients were examined with informed consent. Some of the patients were examined with ERG, fundus fluorescein angiography (FFAA) and optical coherence tomography (Oct). The peripheral venous blood of the family members was extracted and the DNA was extracted. The candidate gene location of ADRP and the mutation of candidate gene in the location region were detected. Results 1) there were 32 members in this family, including 16 males, 16 females and 12 patients, including 6 males and 6 females. The clinical characteristics of the family were early onset, rapid development of the disease, and the severity of the disease. The patient was found to have night blindness around 1-2 years of age. This is the earliest reported case of nocturnal blindness in RP pedigree. Visual field reduced ERG showed that the amplitude of AGB wave was significantly decreased or even extinguished by linkage analysis of known ADRP candidate genes. The results suggested that the candidate gene was located in the RHO gene region of chromosome 3, and the RHO gene sequence analysis showed the mutation of 512CTP. P171L in the coding region of exon 2. Conclusion (P 171L) is the pathogenic gene of retinitis pigmentosa in this autosomal retinitis pigmentosa pedigree (P 171L).
【學(xué)位授予單位】：安徽醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2010
【分類號(hào)】：R774.1

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本文編號(hào)：1640239