卵黄样黄斑营养不良致病基因的两个新突变

发布时间：2018-04-15 16:56

本文选题：卵黄样黄斑营养不良 + BEST-基因　；参考：《眼科》2017年03期

【摘要】：目的对两个卵黄样黄斑营养不良(Best病)家系进行基因分析,观察其BEST-1基因的突变位点。设计基因分析。研究对象2个分别包括4人和3人的Best病家系成员及50名正常对照者。方法 2个家系成员均进行全面的眼科检查,包括最佳矫正视力、裂隙灯检查、彩色眼底照相、无赤光眼底照相、眼底自发荧光照相、荧光素眼底血管造影(FFA)和眼电图(EOG)检查。抽取家系成员和50个正常对照者的外周静脉血,提取DNA,采用聚合酶链式反应(PCR)扩增BEST-1基因直接Sanger测序,Genbank BLAST比对分析,明确其突变位点。主要指标BEST-1测序图。结果家系1先证者及其父亲均为单眼病变,后者EOG检查患眼光峰暗谷比值(Arden值)为1.08(1.5)。眼底像可见患眼黄斑区卵黄样改变,FFA早期病变区仅表现稍低荧光,而眼底自发荧光显示因黄斑区异常脂褐质堆积呈现相应部位高荧光。该家系中其余2名成员各项眼科检查均正常且无视力下降等主诉。2例患者的BEST-1基因在外显子4的第401位碱基发生错义突变(c.401CG),该突变导致BEST-1基因编码的氨基酸序列中第105位氨基酸由精氨酸变为甘氨酸(p.Arg105Gly)。家系2先证者为双眼发病,眼底检查双眼黄斑区卵黄样改变,FFA早期病变区仅表现稍低荧光,而眼底自发荧光示相应部位高荧光。其中1例无视力下降主诉,其EOG检查Arden值为1.2(1.5)。先证者及1例EOG检查异常者的BEST-1基因在外显子2的第236位碱基发生错义突变(c.236TA),该突变导致BEST-1基因编码的氨基酸序列中第50位氨基酸由酪氨酸变为天冬酰胺(p.Tyr50Asn)。家系其他成员及50名正常对照者的DNA分析中均未检测到上述两个突变。结论 c.401CG、c.236TA突变目前尚未被报道,为Best病家系的两个新的突变位点。
[Abstract]:The purpose of the two vitelliform macular dystrophy (Best disease) family gene mutation analysis, observation of BEST-1 gene in the gene analysis. The object of study. The design of 2 people and 3 people respectively, including 4 Best pedigrees, and 50 normal controls. Methods 2 family members of ophthalmologic examination, including best corrected visual acuity, slit lamp examination, color fundus photography, red free fundus photography, fundus autofluorescence photography, fundus fluorescein angiography (FFA) and electrooculogram (EOG) examination. Peripheral venous blood from family members and 50 normal controls, DNA extraction, polymerase chain reaction (PCR) BEST-1 gene was amplified by direct Sanger sequencing analysis of Genbank BLAST comparison, clear the main indicators of the mutation. BEST-1 sequencing map. Results the families of 1 probands and their father were monocular lesions, the latter EOG eyes dark light peak valley ratio (Arden Value) was 1.08 (1.5). The fundus macular visible eyes vitelliform change region early lesions FFA showed only slightly lower fluorescence, and fundus autofluorescence due to abnormal macular lipofuscin accumulation showed showed the corresponding positions of high fluorescence. In this family the other 2 members of the ophthalmic examination were normal and no decreased vision BEST-1 gene.2 in patients with exon 4 401st nucleotide missense mutation (c.401CG), the mutation in the 105th amino acid amino acid sequence of BEST-1 gene encoding by arginine to glycine (p.Arg105Gly). The families of 2 probands for binocular incidence, fundus examination eyes macular yolk like change, early FFA lesions showed only slightly lower fluorescence, and fundus autofluorescence in the corresponding parts of high fluorescence. Of which 1 cases had complained of decreased visual acuity, the EOG value of Arden was 1.2 (1.5). The proband and EOG examination of 1 cases of abnormal BEST-1 gene in Exon 2 236th nucleotide missense mutation (c.236TA), the mutation in the fiftieth amino acid amino acid sequence of BEST-1 gene encoding by tyrosine into asparagine (p.Tyr50Asn). DNA analysis of other family members and 50 normal controls were not detected in the two mutant c.401CG. Conclusion. The c.236TA mutation has not yet been reported, two new mutations of Best pedigree.

【作者单位】：首都医科大学附属北京同仁医院北京同仁医院眼科中心眼科学与视觉科学北京市重点实验室;
【基金】：国家自然科学基金(30772378)
【分类号】：R774.5

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