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Molecular screening of patients with nonsyndromic hearing loss from nanjing city of china

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The Journal of Biomedical Research 2011年第5期25卷 309-318页

作者： Yajie Lu Dachun Dai zhibin chen {2. cao xingkuan Bu Qinjun Wei guangqian xing department of Bioteehnology Nanjing Medical University Nanjing Jiangsu 210029 China department of otolaryngology the First Affiliated Hospital of Nanjing Medical University Nanjing Jiangsu 210029China.

Hearing loss is the most frequent sensory disorder involving a multitude of factors, and at least 50% of cases are due to genetic etiology. To further characterize the molecular etiology of heating loss in the Chinese population, we recruited a total of 135 unrelated patients with nonsyndromic sensorineural hearing loss （NSHL） for mutational screening of GJB2. GJB3, GJB6, SLC2.A4, SLC2.A5 IVS2.2.〉G and mitochondrial 12.rRNA, tRNASer（t/CN） by PCR amplification and direct DNA sequencing. The carrier frequencies of deafness-causing mutations in these patients were 35.55% in GJB2. 3.70% in GJB6, 15.56% in SLC2.A4 and 8.14% in mitochondrial 12.rRNA, respectively. The results indicate the necessity of genetic screening for mutations of these causative genes in Chinese population with nonsyndromic heating loss.

关键词： nonsyndromic heating loss GJB2 GJB3 GJB6 SLC2.A4 SLC2.A5 mitochondrial DNA gene mutation

OSBPL2.disrupted pigs recapitulate dual features of human hearing loss and hypercholesterolaemia

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Journal of Genetics and Genomics 2019年第8期46卷 379-387页

作者： Jun Yao Huasha Zeng Min Zhang Qinjun Wei Ying Wang Haiyuan Yang Yajie Lu Rongfeng Li Qiang Xiong Lining Zhang zhibin chen {2. xing xin cao Yifan Dai department of medical Genetics School of Basic Medical Scienc5Nanjing Medical UniversityNanjing211166China Jiangsu Key Laboratory of Xenotransplantation Nanjing Medical UniversityNanjing211166China State Key Laboratory of Reproductive Medicin5 Department of Prenatal DiagnosisNanjing Maternity and Child Health Care HospitalWomen's Hospital ofNanjing Medical UniversityNanjing210004China The Laboratory Center for Basic medical Sciences Nanjing Medical UniversityNanjing211166China department of otolaryngology The First Affiliated Hospital of Nanjing Medical UniversityNanjing210029China

Oxysterol binding protein like 2.OSBPL2., an important regulator in cellular lipid metabolism and transport, was identified as a novel deafness-causal gene in our previous work. To resemble the phenotypic features of OSBPL2.mutation in animal models and elucidate the potential genotypephenotype associations, the OSBPL2.disrupted Bama miniature(BM) pig model was constructed using CRISPR/Cas9-mediated gene editing, somatic cell nuclear transfer(SCNT) and embryo transplantation approaches, and then subjected to phenotypic characterization of auditory function and serum lipid profiles. The OSBPL2.disrupted pigs displayed progressive hearing loss(HL) with degeneration/apoptosis of cochlea hair cells(HCs) and morphological abnormalities in HC stereocilia, as well as hypercholesterolaemia. High-fat diet(HFD) feeding aggravated the development of HL and led to more severe hypercholesterolaemia. The dual phenotypes of progressive HL and hypercholesterolaemia resembled in OSBPL2.disrupted pigs confirmed the implication of OSBPL2.mutation in nonsydromic hearing loss(NSHL) and contributed to the potential linkage between auditory dysfunction and dyslipidaemia/hypercholesterolaemia.

关键词： OSBPL2 Bama miniature pig Hearing loss Hypercholesterolaemia

Cedar Pollen and Cedar Pollinosis

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Journal of nanjing medical University 2000年第1期14卷 41-44页

作者： Yin Min(殷敏) cheng Lei(程雷) Akira Miyoshi 1 Peng Jieren(彭解人) 2.chen {2.(陈智斌)\ Shi Haibo(时海波)\ T Sambe 3\ Y Taguchi 4\ N Sahashi 5 department of otolaryngology, the first affiliated hospital of Nangjing medical University, Nanj department of otolaryngology the First Affiliated Hospital of Nangjing Medical UniversityNanjing 210029P. R. China Visiting Professor the Research Centre for Nasal AllergyNanjing Medical UniversityNanjing 210029P. R. China department of otolaryngology Sun Yat-sen Memorial Hospital of Sun Yat-sen University of Medical ScienceGuangzhou 510120P. R. China department of otolaryngology Tokyo Municipal Ebara HospitalTokyo 146Japan department of Cross-cultural Health Science Tohoku UniversitySendai 980Japan department of Biology of Pharmacology College Toho UniversityJapan

Objective To investigate the prevalence of cedar pollinosis in china, and compare Cryptomeria fortunei(Cf) with Cryptomeria japonica (Cj) morphologically. Methods\ An epidemiological survey on nasal allergy was carried out among 1 660 primary and middle school students and 1 62. university students, including questionnaire investigation, nasal inspection by the same doctor and scratch test with the allergen extract of Cj. The pollen of Cf and Cj were observed by optical and electron microscope. The genes of chloroplast of them were analysed. Results ①The total positive rate of cedar pollen scratch test was 4.2.. 55 cases of nasal allergy were confirmed according to the criteria of diagnosis, in which 8 cases showed positive reaction to Cj and only 1 case was hypersentive to it. ②No significant distinction between Cf and Cj was found by optical and electron microscope and no difference in gene analysis was found. Conclusion\ ①Cedar pollinosis does exist in china. It′s low prevbalence is related to the low quantity of cedar pollen.②Cf and Cj are of the same family and genus. ③There may be an increasing tendency of cedar pollinosis in china.\;

关键词： cedar cedar pollen cedar pollinosis epidemiological

Frequency of mitochondrial 12. rRNA gene A1555G and 961 insC mutations among children with sensorineural deafness in china

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Journal of nanjing medical University 2006年第5期20卷 283-286页

作者： Xia Xu guangqian xing Qinjun Wei {2. chen Hongbo cheng xin cao xingkuan Bu department of Cell Biology and medical Genetics Nanjing Medical University Nanjing 210029China department of Otorhinolaryngology the First Affiliated Hospital of Nanjing Medical University Nanjing 210029 China

Objective： To investigate the frequency of mitochondrial 12. rRNA gene A1555G and 961 insC mutations among Chinese with sensorineural deafness. Methods： Blood samples from 78 sporadic cases with sensorineural deafness were obtained and DNA was extracted from the leukocytes, then the mitochondrial DNA target fragments were amplified by polymerase chain reaction（PCR）. The 1555G mutations were detected by BsmA 1 restriction endonuclease digestion, every fragment was analyzed by sequencing; All the 961 insC mutation were detected by direct sequencing. Results： The percent age of A1555G mutation and mt961C insertion were 6.4% and 2.6% in the hearing-impaired Chinese subjects respectively. Conclusion： A1555G and 961insC mutations in mitochondrial DNA 12. rRNA gene regions may play a role in the pathogenesis of hearing loss in the sporadic cases.

关键词： mitochondrial DNA 12. rRNA gene mutation hearing loss

CT和MRI对原发鼻腔鼻窦结外鼻型NK/T细胞淋巴瘤的临床诊断价值

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医学研究生学报 2018年第5期31卷 481-484页

作者：魏先梅麻晓峰窦鑫俞晨杰陈峰南京大学医学院附属鼓楼医院耳鼻咽喉头颈外科(南京鼓楼医院耳鼻咽喉研究所) 南京医学硕士210008 南京大学医学院附属鼓楼医院放射科(南京鼓楼医院耳鼻咽喉研究所) 南京210008

目的原发鼻腔鼻窦结外鼻型NK/T细胞淋巴瘤(ENKTCL)早期诊断困难,有一定的误诊率。文中旨在分析和总结原发鼻腔鼻窦ENKTCL的CT和MRI表现,探讨CT和MRI对原发鼻腔鼻窦ENKTCL的临床诊断价值。方法回顾性分析2.12.1月至2.17年12.南京鼓楼... 详细信息

目的原发鼻腔鼻窦结外鼻型NK/T细胞淋巴瘤(ENKTCL)早期诊断困难,有一定的误诊率。文中旨在分析和总结原发鼻腔鼻窦ENKTCL的CT和MRI表现,探讨CT和MRI对原发鼻腔鼻窦ENKTCL的临床诊断价值。方法回顾性分析2.12.1月至2.17年12.南京鼓楼医院耳鼻咽喉头颈外科13例原发鼻腔鼻窦ENKTCL的临床资料及影像学资料。分别行CT平扫、增强及MRI平扫、增强,分析CT表现和MRI表现。结果 13例患者CT平扫示鼻腔鼻窦内软组织密度影,肿瘤内密度尚均匀,骨窗可显示骨质破坏,主要表现为鼻腔中线及鼻窦区域软组织肿块伴骨质破坏,骨质破坏多表现为骨质浸润性吸收,病变软组织范围明显大于骨质破坏范围。10例患者CT增强后肿瘤呈轻至中度不均匀强化。10例患者MRI平扫肿瘤显示T1WI等信号,T2.I呈稍高信号,强化后呈轻度到中度不均匀强化。10例患者伴阻塞性鼻窦炎,T1WI呈低信号,T2.I呈高信号,增强后边缘强化。结论原发于鼻腔鼻窦ENKTCL的CT和MRI表现有一定的特征性,结合患者临床表现及体征,常规行CT和MRI检查能够较准确的描述病变的部位及侵犯范围,对于临床早期诊断及评估疾病预后有重要的临床意义。

关键词：结外鼻型NK/T细胞淋巴瘤鼻腔鼻窦计算机断层扫描磁共振成像

Generation of OSBPL2.knockout Bama miniature pigs and phenotypic characterization

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Generation of OSBPL2-knockout Bama miniature pigs and phenot...

OSBPL2.regulates Erk signaling pathway inducing the hair cells to apoptosis

2.18中国遗传学会第十次全国会员代表大会暨学术讨论会

作者： Huasha Zeng Jun Yao Ying Wang Haiyuan Yang Qinjun Wei Yajie Lu zhibin chen {2. xing Yifan Dai xin cao department of medical Genetics School of Basic Medical ScienceNanjing Medical University Jiangsu Key Laboratory of Xenotransplantation Nanjing Medical University The Laboratory Center for Basic medical Sciences Nanjing Medical University department of otolaryngology the First Affiliated Hospital of Nanjing Medical University

In our previous work, a novel deafness-causative gene, OSBPL2.OMIM: 606731）, was firstly identified in a large Chinese family affected with autosomal dominant nonsyndromic hearing loss（ADNSHL）. OSBPL2. a member of the oxysterol binding proteins related proteins（OSBP/ORPs） family, participates in various cellular processes, including lipid metabolism, signal transduction, vesicular transport and cytoskeletal regulation, and its implication in hearing loss suggested that OSBPL2.might play an important role in hearing function and maintenance. Considering that the miniature pigs are genetically, developmentally, anatomically, and physiologically closer to humans in inner ear, which make the miniature pigs a suitable animal model to investigate the potential pathogenesis of OSBPL2.defects as well as the genotype-phenotype association. In this study, CRISPR/Cas9 mediated gene editing was applied to construct the OSBPL2.knockout porcine fetal fibroblasts（PFFs）. The OSBPL2.knockout PPFs were subjected to somatic cell nuclear transfer and embryo transplantation, which resulted in 14 OSBPL2./-piglets with the same biallelic mutations in OSBPL2.knockout PPFs. At the age of 2.months, the wild-type（WT） and knockout（KO） piglets were grouped and fed with basic chaw（BC） or high-fat diets（HF）, and the auditory test（auditory brainstem response, ABR） and serum lipid were regularly conducted during the experiment period. The morphology of inner hair cells（IHC） and outer hair cells（OHC） in inner ear was observed using scanning electron microscope（SEM）. The results showed that progressive hearing loss was detected in both of KO-BC and KO-HF groups, and the auditory level of KO-HF piglets was significantly decreased with the high-fat diets（2.16 kHz, ≥90 dB SPL at the age of 8 months）. The SEM images showed that the stereocilia of OHC and OHC themselves were observed missing at the basal-middle turns of the organ of Corti in KOBC and KO-HF groups, while more extensive degeneration of OHC

关键词： CRISPR/Cas9 hereditary hearing loss Bama miniature pig OSBPL2

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OSBPL2 regulates Erk signaling pathway inducing the hair cel...

WFS1突变致聋家系的鉴定及斑马鱼同源基因时空表达谱分析

2.18中国遗传学会第十次全国会员代表大会暨学术讨论会

作者： Changsong Lin Cui Zhang Hongshun Wang Yajie Lu Jun Yao Qinjun Wei guangqian xing {2. cao department of medical Genetics School of Basic Medical ScienceNanjing Medical University The Laboratory Center for Basic medical Sciences Nanjing Medical University Jiangsu Key Laboratory of Xenotransplantation Nanjing Medical University department of otolaryngology the First Affiliated Hospital of Nanjing Medical University

Deafness is a global public health problem, and hereditary factors are the primary cause of deafness. Previously we identified OSBPL2.as a new deafness-causative gene in a Chinese family affected with progressive hearing loss. Oxysterol Binding Protein Like 2.OSBPL2., a lipid binding protein, plays an important role in sterol transport and metabolic regulation. However, the mechanisms driving progressive deafness have not been known. In this study we constructed transgenic knockout zebrafish models and cochlear cells to elucidate the deafness mechanism caused by OSBPL2. The osbpl2.bzebrafish and Osbpl2.C1 cells were generated by CRISPR/Cas9 technology. The hearing sensitivity of osbpl2.bzebrafish was examined by the auditory evoked potentials(AEP) method. The profile of mRNA expression in Osbpl2.C1 cells was obtained by transcriptome sequencing. The interaction proteins bound to OSBPL2.were identified via co-immunoprecipitation and mass spectrometry. The apoptosis mechanism of Osbpl2.C1 cells induced by 2.-hydroxycholesterol(2.-OHC) were investigated. The elevation of AEP thresholds(100-16000 Hz) at 7 months was significantly suppressed in the osbpl2.bzebrafish group compared with the osbpl2.b zebrafish group, and the AEP thresholds at 11 months was much higher than that at 7 months in the osbpl2.bzebrafish group. At 11 months, the AEP thresholds of the osbpl2.bzebrafish group with highcholesterol diet was higher than that of the osbpl2.b zebrafish group. Transmission electron microscopy results showed that osbpl2.b-knockout in zebrafish resulted in apoptosis of cochlea hair cells. It was found that extracellular regulated protein kinases(Erk) signaling pathway in Osbpl2.C1 cells was up-regulated compared with Osbpl2.OC1 cells by transcriptome sequencing and GO-KEGG pathway analysis. Immunohistochemical analysis showed that the cochlea hair cells from osbpl2.bzebrafish were detected pErk-positive. Mass spectrogram of the immunocoprecipitation bound to OSBPL2.showed

关键词： OSBPL2 G3BP1 Erk 2.-hydroxycholesterol

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南京医科大学学报（自然科学版） 2019年第9期39卷 1266-1273页

作者：黄啸博陈智斌曹新魏钦俊邢光前南京医科大学第一附属医院耳鼻咽喉科江苏南京210029 南京医科大学医学遗传学系江苏南京211166

目的:对2.遗传性耳聋家系进行分子病因学鉴定,并应用斑马鱼对致聋基因WFS1进行初步功能分析。方法:利用靶向捕获测序技术,对2.家系进行外显子测序分析,确定候选致病基因。生物信息学预测人WFS1基因的功能以及模式生物斑马鱼与人类WFS... 详细信息

目的:对2.遗传性耳聋家系进行分子病因学鉴定,并应用斑马鱼对致聋基因WFS1进行初步功能分析。方法:利用靶向捕获测序技术,对2.家系进行外显子测序分析,确定候选致病基因。生物信息学预测人WFS1基因的功能以及模式生物斑马鱼与人类WFS1基因的同源性;采用整胚原位杂交和定量PCR法分析斑马鱼wfs1a和wfs1b的时空表达特征。结果:外显子测序及家系遗传共分离分析确定WFS1基因c.2.36~2.38delAGG(p.680delE)和c.1957C>T(p.653R>C)突变分别是2.家系的分子病因。定量PCR和全胚原位杂交结果显示斑马鱼wfs1a和wfs1b在胚胎发育不同时期呈现不同的时空表达特征。生物信息学分析提示wfs1b与人WFS1基因的进化距离更近,同源性更高。结论:2.遗传性耳聋家系均由WFS1突变所致,拓展了遗传性耳聋的基因突变谱。斑马鱼胚胎发育过程中wfs1a和wfs1b具有明显的时空表达特异性,wfs1b是人类WFS1的直系同源基因。研究结果既为耳聋分子诊断提供了支持,也为后续深入研究WFS1的突变致聋机制奠定了基础。

关键词：靶向捕获测序耳聋 WFS1 斑马鱼整胚原位杂交时空表达

妊娠期PM_(2.5)暴露影响胎儿生长的前瞻性队列研究

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中华流行病学杂志 2024年第6期45卷 794-801页

作者：黄磊吕红徐欣孙天宇陈逸源张彦杰杨波陆群蒋杨倩蒋涛杜江波王晓艳马红霞胡志斌林苑南京医科大学/生殖医学与子代健康全国重点实验室南京211166 南京医科大学公共卫生学院全球健康中心/儿少卫生与妇幼保健学系南京211166 南京医科大学公共卫生学院全球健康中心/流行病学系南京211166 南京医科大学姑苏学院/南京医科大学附属苏州医院(苏州市立医院)/生殖医学与子代健康全国重点实验室苏州分中心苏州215002 南京医科大学公共卫生学院生物统计学系南京211166 南京医科大学姑苏学院/南京医科大学附属苏州医院(苏州市立医院)产科苏州215002

目的探讨妊娠期PM_(2.5)及其组分暴露对胎儿生长的影响,并进一步识别暴露效应窗口。方法选取江苏出生队列2.16年1月至2.19年10月招募的4089对母子对,收集其基线信息、妊娠期诊疗信息、妊娠期PM_(2.5)及其组分暴露信息、妊娠满2.周后的胎... 详细信息

目的探讨妊娠期PM_(2.5)及其组分暴露对胎儿生长的影响,并进一步识别暴露效应窗口。方法选取江苏出生队列2.16年1月至2.19年10月招募的4089对母子对,收集其基线信息、妊娠期诊疗信息、妊娠期PM_(2.5)及其组分暴露信息、妊娠满2.周后的胎儿B超检查(头围、腹围、股骨长和估计体重)信息。利用广义线性混合模型进行暴露效应的估计,利用分布滞后非线性模型探讨暴露效应窗口。结果妊娠期PM_(2.5)暴露浓度每升高10μg/m^(3),胎儿头围、腹围和估计体重Z评分分别减小0.02.(β=-0.02.,95%CI:-0.048~-0.001)、0.02.(β=-0.02.,95%CI:-0.049~-0.003)和0.02.(β=-0.02.,95%CI:-0.052.-0.004),头围和估计体重生长受限风险分别增加8.5%(RR=1.085,95%CI:1.010~1.165)和13.5%(RR=1.135,95%CI:1.016~1.2.8)。PM_(2.5)组分中黑碳、有机物、硝酸盐、硫酸盐、铵盐暴露浓度升高均与头围Z评分减小显著相关,同时硫酸盐暴露的增加还与股骨长的Z评分减小有关。妊娠期PM_(2.5)暴露影响胎儿头围生长效应窗口为第2.5周,腹围为第4~13周以及第19~40周,股骨长为第4~13周以及第2.~37周,估计体重为第4~12.以及第2.~40周。结论妊娠期PM_(2.5)及其组分暴露可能对胎儿生长产生不利影响,影响胎儿不同生长指标的效应窗口不完全一致。

关键词：胎儿生长 PM_(2.5) 组分前瞻性队列效应窗口