Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially di

来源 :第十四次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户:liust4258
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
  Purpose: Genomic mutations in about 200 genes are associated with hereditary retinal diseases.In this study, we screened for the disease-causing gene mutation in a family with X-linked retinal degenerative disease.Methods: Pedigree data were collected and genomic DNA was isolated from peripheral blood of family members,who also underwent comprehensive ophthalmic examination including visual acuity,slit-lamp examination, fundus examination and visual field testing at Qilu Hospital of Shandong University.
其他文献
We prepared innovative polyelectrolyte complex nanoparticles(AAP/LCS NPs), formed by mixing negatively charged auricularia auricular polysaccharide(AAP) with positively charged low molecular weight ch
In this study, we performed the experiments to explore the beneficial effects of Angelic sinensis polysaccharedes (ASP) on hypoglycemic and hypolipidemic in type 2 diabetic Balb/c mice.
会议
A novel oral mucosal vaccine based on microneedle array has been developd to make a highly safe, stable and potent product with good compliance.Firstly two types of liposomes as a vaccine antigen (Ag)
This work described an eco-friendly approach for the synthesis of sliver nanoparticles (AgNPs) with a water-soluble fraction of polysaccharides (AMWP) extracted from the roots ofAstragalus membranaceu
Aims: The 3243A>G mutation of mtDNA usually is associated with MELAS syndrome.In 3243A>G patients, respiratory chain complex Ⅰ deficiency is most frequently found, and partial decreased amounts of com
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) is highly heterogeneous, and transmembrane channel-like 1 gene is a disease-causing gene.So far, 35 homozygous mutations in TMC1 wer
先天性唇腭裂(Cleft with or without palate,CL/P)是一种常见的生理缺陷,发病率为1∶500-1∶2500,临床表现为唇裂伴有或者不伴有腭裂.唇腭裂具有高度的遗传异质性,可分为综合征型和非综合征型两种类型.其中非综合征型唇腭裂受基因和环境两种因素共同影响,致病基因及分子病理机制尚不清楚.本研究收集了一个四代遗传的非综合征型唇腭裂家系,该家系共有6位患者,其中有2位表现
会议
肺泡微结石症(pulmonary alveolar microlithiasis,PAM)是一种罕见的肺部疾病,以磷酸钙盐颗粒在肺泡内沉积为特征,有家族遗传倾向,多以常染色体隐性方式遗传.PAM患者早期症状不明显,可在30-40岁之间逐渐出现干咳、呼吸困难、咯血、气胸及肺心病等症状.临床上主要通过X线或胸部CT对PAM进行确诊,患者双肺可见弥漫性砂粒样钙化结节影,且随病情进展钙化灶逐渐增多并出现聚
会议
OBJECTIVE: Sepsis is an inflammatory syndrome caused by infection, and both its incidence and mortality are high.Because interferon-gamma (IFN-γ) plays an important role in inflammation, this work ass
会议
ORMDL sphingolipid biosynthesis regulator 3 (ORMDL3) is a universally confirmed susceptibility gene for asthma and has recently emerged as a crucial modulator in lipid metabolism, inflammation and end