AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 m...AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy.Targeted sequence capture array technique was used to screen potential pathologic variants.Polymerase chain reaction and Sanger sequencing were used to confirm the screening results.RESULTS:Fundus examination showed round macular lesions appeared in both eyes.Optical coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right eye.Fundus autofluorescence showed patchy hyper-autofluorescence in the macula.Visual field examination indicates central defects in both eyes.Electroretinogram(ERG)and multifocal ERG showed no obvious abnormalities.Fundus fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left eye.We found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1L1,which were originated from the parents and formed compound heterozygous variants.Both variants are likely pathogenic according to the ACMG criteria.Multimodal imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal disorders.CONCLUSION:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1L1 maculopathy.展开更多
目的:研究长链非编码RNA(lncRNA) RP1-90L14.1对前列腺癌LNCaP细胞增殖、迁移、侵袭的作用以及对GRIN2A、BACE2基因表达的影响。方法:采用RT-PCR检测前列腺癌LNCaP、LNCaP-AI细胞中RP1-90L14.1的表达水平;在LNCaP细胞中瞬时转染RP1-90L1...目的:研究长链非编码RNA(lncRNA) RP1-90L14.1对前列腺癌LNCaP细胞增殖、迁移、侵袭的作用以及对GRIN2A、BACE2基因表达的影响。方法:采用RT-PCR检测前列腺癌LNCaP、LNCaP-AI细胞中RP1-90L14.1的表达水平;在LNCaP细胞中瞬时转染RP1-90L14.1过表达质粒和载体质粒,即转染RP1-90L14.1实验组(LNCaP-RP1-90L14.1组)和转染阴性对照组(LNCaP-NC组);采用普通培养液和活性炭吸附无酚红培养液培养两组细胞;CCK-8法、Transwell法检测两组细胞增殖、迁移、侵袭能力;RT-PCR和Western印迹检测两组细胞中N-甲基-D-天氡氨酸离子型谷氨酸受体2A(GRIN2A)、β位点淀粉样前体蛋白裂解酶2 (BACE2) mRNA和蛋白表达含量变化。结果:RP1-90L14.1在LNCaP-AI中的表达量显著高于LNCaP细胞(8.49±0.43 vs 2.53±0.95,P<0.05)。转染RP1-90L14.1后,LNCaP-RP1-90L14.1组RP1-90L14.1表达量显著高于LNCaP-NC组(0.71±0.22 vs 0.02±0.01,P<0.05);在普通培养液和活性炭吸附无酚红培养液中,培养72 h时,LNCaP-RP1-90L14.1组细胞活性分别高出LNCaP-NC组51.95%(1.22±0.08 vs 0.08±0.05,P<0.05)和50.69%(0.79±0.02 vs 0.53±0.05,P<0.05);培养96 h时,LNCaP-RP1-90L14.1组分别高出LNCaP-NC组51.72%(1.72±0.07 vs 1.13±0.05,P<0.05)和60.23%(1.18±0.05 vs 0.73±0.08,P<0.05)。转染RP1-90L14.1后,在普通培养液和活性炭吸附无酚红培养液中,细胞迁移能力LNCaP-RP1-90L14.1组均显著高于LNCaP-NC组[(682.0±42.7)个vs(422.0±37.1)个,(419.0±42.9)个vs(251.0±25.9)个,P<0.05];细胞侵袭能力LNCaP-RP1-90L14.1组也均显著高于LNCaP-NC组[(507.0±22.2)个vs(274.0±19.6)个,(352.0±14.1)个vs(216.0±14.3)个,P<0.05]。LNCaP-RP1-90L14.1组与LNCaP-NC组相比,GRIN2A mRNA和蛋白表达量(5.13±0.89、2.09±0.54,5.88±0.29、2.03±0.22),BACE2 mRNA和蛋白表达量(5.82±0.50、2.53±0.30,4.89±0.19、3.37±0.13)均有统计学差异(P<0.05)。结论:lncRNA RP1-90L14.1可能在调控前列腺癌细胞的增殖、迁移及侵袭行为中起重要作用;RP1-90L14.1能促进GRIN2A、BACE2的表达;RP1-90L14.1与GRIN2A、BACE2可能存在内源性竞争关系。展开更多
AIM:To screen mutations in the retinitis pigmentosa 1(RP1) gene and the rhodopsin(RHO) gene in Chinese patients with retinitis pigmentosa sine pigmento(RPSP)and describe the genotype-phenotype relationship of the muta...AIM:To screen mutations in the retinitis pigmentosa 1(RP1) gene and the rhodopsin(RHO) gene in Chinese patients with retinitis pigmentosa sine pigmento(RPSP)and describe the genotype-phenotype relationship of the mutations.·METHODS:Twenty affected,unrelated Chinese individuals with RPSP(4 autosomal dominant RPSP,12autosomal recessive RPSP and 4 unknown inheritance pattern) were recruited between 2009 and 2012.The clinical features were determined by complete ophthalmologic examinations.Polymerase chain reaction(PCR) and direct DNA sequencing were used to screen the entire coding region and splice junctions of the RP1gene and the RHO gene.The cosegregation analysis and population frequency studies were performed for patients with identified mutations.·RESULTS:Five variants in the RP1 gene and one in the RHO gene were detected in 20 probands.Four missense changes(rs444772,rs446227,rs414352,rs441800) and one non-coding variant(rs56340615) were common SNPs and none of them showed a significant relationship with RPSP.A missense mutation p.R1443W was identified in the RP1 gene in three affected individuals from a family with autosomal dominant RPSP and was found to cosegregate with the phenotype in this family,suggestive of pathogenic.In addition,population frequency analysis showed the p.R1443W mutation was absent in 300 healthy controls.·CONCLUSION:The identification of p.R1443W mutationcosegregating in a family with autosomal dominant RPSP highlights an atypical phenotype of the RP1 gene mutation,while RHO gene is not associated with the pathogenesis of RPSP in this study.To our knowledge,this is the fist mutation identified to associate with RPSP.展开更多
Aims:More than 20 mutations associated with retinitis pigmentosa(RP)have been identified in the retinitis pigmentosa 1(RP1)gene,all of them leading to the production of a truncated protein without 50-70% of the C-term...Aims:More than 20 mutations associated with retinitis pigmentosa(RP)have been identified in the retinitis pigmentosa 1(RP1)gene,all of them leading to the production of a truncated protein without 50-70% of the C-terminal of the RP1 protein.RP1 was recently found to be a microtubule-associated protein(MAP)and responsible for the organisation of the photoreceptor outer segment.The N-terminal doublecortin(DCX)domain of RP1 is essential for its function.But how the C-terminal of the protein affects its function is still not known.This study aims to get a better understanding of the RP1 gene by mutation screening on RP patients.Methods:Peripheral blood was taken from 72 RP patients.Together with 101 RP patients and 190 control subjects previously reported,mutation screening was performed by polymerase chain reaction(PCR)and direct sequencing.Statistical analysis was performed using SPSS.Results:Two novel missense sequence changes,D984G and C727W,and one novel variant,6492T >G,at the 3 untranslated region were found.They were not found in 190 control subjects.D984G causes RP.It creates two possible N-myristoylation sites according to PROSITE.C727W does not segregate with RP in the family.It abolishes an N-myristoylation site.R872H,a previously reported polymorphism,was predominantly present in control subjects(P=0.001).Conclusions:Our results suggest that disruption of the C-terminal of RP1 may be associated with the development of RP,and the possible involvement of the RP1 polypeptide downstream of its DCX domain in normal RP1 function.展开更多
患者女,38岁。因双眼不明原因中心视力缓慢进展性下降8年加重1年,于2022年8月24日到河北省邯郸市眼科医院(邯郸市第三医院)就诊。既往身体健康,否认其他全身系统性疾病史。眼科检查:右眼、左眼最佳矫正视力(BCVA)分别为0.15、0.12。右...患者女,38岁。因双眼不明原因中心视力缓慢进展性下降8年加重1年,于2022年8月24日到河北省邯郸市眼科医院(邯郸市第三医院)就诊。既往身体健康,否认其他全身系统性疾病史。眼科检查:右眼、左眼最佳矫正视力(BCVA)分别为0.15、0.12。右眼、左眼眼压分别为14、15 mm Hg(1 mm Hg=0.133 kPa)。双眼眼前节检查未见明显异常。近红外成像(NIR)检查,双眼黄斑中心区反射信号弱(图1A,1B)。蓝光自发荧光检查,黄斑区可见强自发荧光(图1C,1D)。光相干断层扫描(OCT)检查,双眼黄斑区椭圆体带(EZ)、嵌合体带(IZ)反射信号减弱、紊乱(图1E,1F)。OCT血管成像(OCTA)定量分析发现,浅层毛细血管丛(SCP)和深层毛细血管丛(DCP)的血流密度均降低(图1G,1H)。Humphrey视野检查,双眼视野中心暗点(图1I,1J)。多焦点视网膜电图(ERG)检查,双眼黄斑区中心凹尖峰振幅密度下降(图1K,1L)。闪光视觉诱发电位检查,双眼各波潜伏期稍有延长(图1M,1N)。征求患者及父亲和姑姑同意后行全外显子基因检测。结果显示,患者携带RP1L1基因错义突变及NM_178857:exon4:c.2880G>T:(p.Trp960Cys)突变点位。其父亲和姑姑均无基因变异。诊断:隐匿性黄斑营养不良(OMD)(图2)。对患者进行随访观察,2年后患者于我院复查,OCT检查,双眼中央视网膜厚度变薄(图3A,3B)。展开更多
Background Retinitis pigmentosa(RP)is a genetically and clinically heterogeneous group of hereditary degenerative disorders affecting approximately one in every 4000 people worldwide.Abnormalities in the retina's ...Background Retinitis pigmentosa(RP)is a genetically and clinically heterogeneous group of hereditary degenerative disorders affecting approximately one in every 4000 people worldwide.Abnormalities in the retina's photoreceptors can cause night blindness or even complete vision loss.Retinitis Pigmentosa 1(RP1),also known as the oxygen-regulated protein-1,is a microtubule-associated protein(MAP)that organizes the outer segment of the photoreceptor.Besides,mutations in the RP1 gene are associated with dominant or recessive form of RP.This study aims to identify the potential pathogenic genes in Chinese RP patients and to elucidate the association relationship between the mutant gene and the phenotypes.Methods Multiple ophthalmic examinations,whole-exome sequencing,sanger sequencing,and in silico analysis were performed to evaluate the clinical features and pathogenic genes in a five-generation Chinese family diagnosed with RP.Results Our findings revealed a novel truncating mutation c.2015_2018del p.(Lys672Argfs∗9)in RP1 that may result in the translation of a protein with deleterious effects on photoreceptors.Therefore,resulting in autosomal dominant retinitis pigmentosa(ADRP).Conclusions This study broaden the range of genetic mutations associated with RP1 in ADRP and make a valuable contribution to the ongoing endeavors aimed at characterizing the molecular aspects of Chinese ADRP.Future studies would pay more attention in determining the characterization of the mutantations in RP1 gene and the relationship between genotype and phenotype in RP patients.展开更多
目的:探讨胰岛素样生长因子结合蛋白相关蛋白1(insulin-like growth factor-binding protein related protein 1,IGFBP-rP1)基因在儿童急性白血病中的表达及临床意义。方法:应用实时荧光定量PCR(real-time fluorescence quantitative-PC...目的:探讨胰岛素样生长因子结合蛋白相关蛋白1(insulin-like growth factor-binding protein related protein 1,IGFBP-rP1)基因在儿童急性白血病中的表达及临床意义。方法:应用实时荧光定量PCR(real-time fluorescence quantitative-PCR,RFQ-PCR)法检测168例(次)急性白血病患儿骨髓细胞中IGFBP-rP1 mRNA的表达水平,并与同期30例非白血病患儿作对照。根据儿童急性白血病的预后因素,分析IGFBP-rP1 mRNA的表达与患者临床预后的关系。结果:初诊组急性白血病患儿的IGFBP-rP1 mRNA表达水平明显高于非白血病患儿(P<0.01)。初诊组急性髓细胞白血病(acute myelocytic leukemia,AML)患儿的IGFBP-rP1 mRNA表达水平高于急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)患儿(P=0.013)。完全缓解(complete remission,CR)组AML患儿的IGFBP-rP1 mRNA表达最低,接近非白血病患儿组;复发组AML患儿的IGFBP-rP1 mRNA表达水平再度上升,明显高于CR时的表达水平。而ALL患儿的IGFBP-rP1 mRNA表达水平在初诊组、CR组及复发组间的差异无统计学意义。结论:IGFBP-rP1基因可能参与儿童AML的发生和发展,并有望成为新的治疗靶点。展开更多
B7RP-1(B7 related protein 1)是B7家族的新成员,可持续表达于B淋巴细胞表面。它与其特异性受体ICOS(Inducible costimulator)的结合在机体再次体液免疫应答过程中T细胞的增殖、活化、Th2型细胞因子分泌以及B细胞的增殖、分化、抗体分...B7RP-1(B7 related protein 1)是B7家族的新成员,可持续表达于B淋巴细胞表面。它与其特异性受体ICOS(Inducible costimulator)的结合在机体再次体液免疫应答过程中T细胞的增殖、活化、Th2型细胞因子分泌以及B细胞的增殖、分化、抗体分泌等方面发挥了重要的调节作用。B7RP-1/ICOS信号途径在机体抗感染、抗肿瘤、抗移植排斥等细胞免疫应答过程中也发挥了重要的作用。展开更多
基金Supported by Shenzhen Science and Technology Program,Shenzhen,China(No.JCYJ20200109145001814,No.SGDX20211123120001001)the National Natural Science Foundation of China(No.81970790)Sanming Project of Medicine in Shenzhen(No.SZSM202011015).
文摘AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1.METHODS:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy.Targeted sequence capture array technique was used to screen potential pathologic variants.Polymerase chain reaction and Sanger sequencing were used to confirm the screening results.RESULTS:Fundus examination showed round macular lesions appeared in both eyes.Optical coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right eye.Fundus autofluorescence showed patchy hyper-autofluorescence in the macula.Visual field examination indicates central defects in both eyes.Electroretinogram(ERG)and multifocal ERG showed no obvious abnormalities.Fundus fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left eye.We found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1L1,which were originated from the parents and formed compound heterozygous variants.Both variants are likely pathogenic according to the ACMG criteria.Multimodal imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal disorders.CONCLUSION:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1L1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1L1 maculopathy.
文摘目的:研究长链非编码RNA(lncRNA) RP1-90L14.1对前列腺癌LNCaP细胞增殖、迁移、侵袭的作用以及对GRIN2A、BACE2基因表达的影响。方法:采用RT-PCR检测前列腺癌LNCaP、LNCaP-AI细胞中RP1-90L14.1的表达水平;在LNCaP细胞中瞬时转染RP1-90L14.1过表达质粒和载体质粒,即转染RP1-90L14.1实验组(LNCaP-RP1-90L14.1组)和转染阴性对照组(LNCaP-NC组);采用普通培养液和活性炭吸附无酚红培养液培养两组细胞;CCK-8法、Transwell法检测两组细胞增殖、迁移、侵袭能力;RT-PCR和Western印迹检测两组细胞中N-甲基-D-天氡氨酸离子型谷氨酸受体2A(GRIN2A)、β位点淀粉样前体蛋白裂解酶2 (BACE2) mRNA和蛋白表达含量变化。结果:RP1-90L14.1在LNCaP-AI中的表达量显著高于LNCaP细胞(8.49±0.43 vs 2.53±0.95,P<0.05)。转染RP1-90L14.1后,LNCaP-RP1-90L14.1组RP1-90L14.1表达量显著高于LNCaP-NC组(0.71±0.22 vs 0.02±0.01,P<0.05);在普通培养液和活性炭吸附无酚红培养液中,培养72 h时,LNCaP-RP1-90L14.1组细胞活性分别高出LNCaP-NC组51.95%(1.22±0.08 vs 0.08±0.05,P<0.05)和50.69%(0.79±0.02 vs 0.53±0.05,P<0.05);培养96 h时,LNCaP-RP1-90L14.1组分别高出LNCaP-NC组51.72%(1.72±0.07 vs 1.13±0.05,P<0.05)和60.23%(1.18±0.05 vs 0.73±0.08,P<0.05)。转染RP1-90L14.1后,在普通培养液和活性炭吸附无酚红培养液中,细胞迁移能力LNCaP-RP1-90L14.1组均显著高于LNCaP-NC组[(682.0±42.7)个vs(422.0±37.1)个,(419.0±42.9)个vs(251.0±25.9)个,P<0.05];细胞侵袭能力LNCaP-RP1-90L14.1组也均显著高于LNCaP-NC组[(507.0±22.2)个vs(274.0±19.6)个,(352.0±14.1)个vs(216.0±14.3)个,P<0.05]。LNCaP-RP1-90L14.1组与LNCaP-NC组相比,GRIN2A mRNA和蛋白表达量(5.13±0.89、2.09±0.54,5.88±0.29、2.03±0.22),BACE2 mRNA和蛋白表达量(5.82±0.50、2.53±0.30,4.89±0.19、3.37±0.13)均有统计学差异(P<0.05)。结论:lncRNA RP1-90L14.1可能在调控前列腺癌细胞的增殖、迁移及侵袭行为中起重要作用;RP1-90L14.1能促进GRIN2A、BACE2的表达;RP1-90L14.1与GRIN2A、BACE2可能存在内源性竞争关系。
基金Ningxia Scientific and Technological Projects from Department of Science and Technology in Ningxia Hui Autonomous Region (No.2011ZYS175)
文摘AIM:To screen mutations in the retinitis pigmentosa 1(RP1) gene and the rhodopsin(RHO) gene in Chinese patients with retinitis pigmentosa sine pigmento(RPSP)and describe the genotype-phenotype relationship of the mutations.·METHODS:Twenty affected,unrelated Chinese individuals with RPSP(4 autosomal dominant RPSP,12autosomal recessive RPSP and 4 unknown inheritance pattern) were recruited between 2009 and 2012.The clinical features were determined by complete ophthalmologic examinations.Polymerase chain reaction(PCR) and direct DNA sequencing were used to screen the entire coding region and splice junctions of the RP1gene and the RHO gene.The cosegregation analysis and population frequency studies were performed for patients with identified mutations.·RESULTS:Five variants in the RP1 gene and one in the RHO gene were detected in 20 probands.Four missense changes(rs444772,rs446227,rs414352,rs441800) and one non-coding variant(rs56340615) were common SNPs and none of them showed a significant relationship with RPSP.A missense mutation p.R1443W was identified in the RP1 gene in three affected individuals from a family with autosomal dominant RPSP and was found to cosegregate with the phenotype in this family,suggestive of pathogenic.In addition,population frequency analysis showed the p.R1443W mutation was absent in 300 healthy controls.·CONCLUSION:The identification of p.R1443W mutationcosegregating in a family with autosomal dominant RPSP highlights an atypical phenotype of the RP1 gene mutation,while RHO gene is not associated with the pathogenesis of RPSP in this study.To our knowledge,this is the fist mutation identified to associate with RPSP.
文摘Aims:More than 20 mutations associated with retinitis pigmentosa(RP)have been identified in the retinitis pigmentosa 1(RP1)gene,all of them leading to the production of a truncated protein without 50-70% of the C-terminal of the RP1 protein.RP1 was recently found to be a microtubule-associated protein(MAP)and responsible for the organisation of the photoreceptor outer segment.The N-terminal doublecortin(DCX)domain of RP1 is essential for its function.But how the C-terminal of the protein affects its function is still not known.This study aims to get a better understanding of the RP1 gene by mutation screening on RP patients.Methods:Peripheral blood was taken from 72 RP patients.Together with 101 RP patients and 190 control subjects previously reported,mutation screening was performed by polymerase chain reaction(PCR)and direct sequencing.Statistical analysis was performed using SPSS.Results:Two novel missense sequence changes,D984G and C727W,and one novel variant,6492T >G,at the 3 untranslated region were found.They were not found in 190 control subjects.D984G causes RP.It creates two possible N-myristoylation sites according to PROSITE.C727W does not segregate with RP in the family.It abolishes an N-myristoylation site.R872H,a previously reported polymorphism,was predominantly present in control subjects(P=0.001).Conclusions:Our results suggest that disruption of the C-terminal of RP1 may be associated with the development of RP,and the possible involvement of the RP1 polypeptide downstream of its DCX domain in normal RP1 function.
文摘患者女,38岁。因双眼不明原因中心视力缓慢进展性下降8年加重1年,于2022年8月24日到河北省邯郸市眼科医院(邯郸市第三医院)就诊。既往身体健康,否认其他全身系统性疾病史。眼科检查:右眼、左眼最佳矫正视力(BCVA)分别为0.15、0.12。右眼、左眼眼压分别为14、15 mm Hg(1 mm Hg=0.133 kPa)。双眼眼前节检查未见明显异常。近红外成像(NIR)检查,双眼黄斑中心区反射信号弱(图1A,1B)。蓝光自发荧光检查,黄斑区可见强自发荧光(图1C,1D)。光相干断层扫描(OCT)检查,双眼黄斑区椭圆体带(EZ)、嵌合体带(IZ)反射信号减弱、紊乱(图1E,1F)。OCT血管成像(OCTA)定量分析发现,浅层毛细血管丛(SCP)和深层毛细血管丛(DCP)的血流密度均降低(图1G,1H)。Humphrey视野检查,双眼视野中心暗点(图1I,1J)。多焦点视网膜电图(ERG)检查,双眼黄斑区中心凹尖峰振幅密度下降(图1K,1L)。闪光视觉诱发电位检查,双眼各波潜伏期稍有延长(图1M,1N)。征求患者及父亲和姑姑同意后行全外显子基因检测。结果显示,患者携带RP1L1基因错义突变及NM_178857:exon4:c.2880G>T:(p.Trp960Cys)突变点位。其父亲和姑姑均无基因变异。诊断:隐匿性黄斑营养不良(OMD)(图2)。对患者进行随访观察,2年后患者于我院复查,OCT检查,双眼中央视网膜厚度变薄(图3A,3B)。
基金funded by the Project from the Science Technology Department of Zhejiang Province[No.LGC19H120002]the Natural Science Foundation of Zhejiang Province[No.LQ22C070004]National Natural Science Foundation of China[No.82271065 and No.82471154].
文摘Background Retinitis pigmentosa(RP)is a genetically and clinically heterogeneous group of hereditary degenerative disorders affecting approximately one in every 4000 people worldwide.Abnormalities in the retina's photoreceptors can cause night blindness or even complete vision loss.Retinitis Pigmentosa 1(RP1),also known as the oxygen-regulated protein-1,is a microtubule-associated protein(MAP)that organizes the outer segment of the photoreceptor.Besides,mutations in the RP1 gene are associated with dominant or recessive form of RP.This study aims to identify the potential pathogenic genes in Chinese RP patients and to elucidate the association relationship between the mutant gene and the phenotypes.Methods Multiple ophthalmic examinations,whole-exome sequencing,sanger sequencing,and in silico analysis were performed to evaluate the clinical features and pathogenic genes in a five-generation Chinese family diagnosed with RP.Results Our findings revealed a novel truncating mutation c.2015_2018del p.(Lys672Argfs∗9)in RP1 that may result in the translation of a protein with deleterious effects on photoreceptors.Therefore,resulting in autosomal dominant retinitis pigmentosa(ADRP).Conclusions This study broaden the range of genetic mutations associated with RP1 in ADRP and make a valuable contribution to the ongoing endeavors aimed at characterizing the molecular aspects of Chinese ADRP.Future studies would pay more attention in determining the characterization of the mutantations in RP1 gene and the relationship between genotype and phenotype in RP patients.
文摘B7RP-1(B7 related protein 1)是B7家族的新成员,可持续表达于B淋巴细胞表面。它与其特异性受体ICOS(Inducible costimulator)的结合在机体再次体液免疫应答过程中T细胞的增殖、活化、Th2型细胞因子分泌以及B细胞的增殖、分化、抗体分泌等方面发挥了重要的调节作用。B7RP-1/ICOS信号途径在机体抗感染、抗肿瘤、抗移植排斥等细胞免疫应答过程中也发挥了重要的作用。
