Haploinsufficiency of a novel gene on 3p26.1, SMDD1,cause autosomal-dominant dentin dysplasia type Ⅰ

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:smsyzgc
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
  The hereditary dentin defects, dentinogenesis imperfecta(DGI)and dentin dysplasia (DD) comprise a group of autosomal-dominant genetic conditions and the molecular basis of such dental disorders in all sub-groups except for DD Type Ⅰ (DDI)is linked to mutations in dentin sialophospho-protein gene (DSPP).
其他文献
Biodegradable poly(lactic-co-glycolic acid) (PLGA) nanoparticles (NPs) containing interferon (IFN) α-2b were loaded in chitosan-based thermosensitive hydrogels for sustained delivery of IFN.The inject
会议
Icariin, the main active component in Herba Epimdii, has good anti-osteoprotic activity.However, its poor absorption leads to low bioavailability.Icariin is predominantly hydrolyzed into secondary gly
目的:探讨二代测序(Next generation sequencing,NGS)技术检测假肥大型肌营养不良(Duchenne muscular dystrophy,DMD)患者的可行性.方法:用NGS技术检测3例DMD患者,并用Sanger测序技术对NGS技术检测结果进行验证,同时对家系其他成员的相应位点进行分析.结果:NGS技术结果表明,患者#1为DMD基因编码区第29号外显子存在1个错义突变
目的:探讨多重连接依赖式探针扩增技术(Multiplex ligation-dependent probe amplification,MLPA)技术对假肥大型肌营养不良症(Duchenne/Becker muscular dystrophy,DMD/BMD)患者进行分子诊断、携带者筛查和产前诊断的应用价值.方法:应用MLPA技术对具有典型表型的18例患者进行DMD基因79个外显子的缺失或重复突变
目的:Floating-Harbor syndrome是一种罕见的常染色体显性遗传病,目前仅有50例被报道,以身材矮小、骨龄延迟、语言发育迟缓及特殊面容为主要临床特征,大多数患者伴轻度智力障碍.典型的面部特征包括三角脸、发际线低、眼睛深凹、长睫毛、短人中、薄嘴唇、鼻小柱悬垂等.此外,某些患者具有短指/趾、杵状指、第五指弯曲及高音等临床特征,男性患者常伴有隐睾.本研究对1例生长发育迟缓(-7SD)、
会议
Medical genetics and genomics is a newly developed clinical specialty built upon accumulated knowledge of human genetics and discoveries of thousands of genetic disorders.
会议
Genomic disorders are caused by large copy number variations (CNVs, including deletions and duplications)in the human genome.Different from single nucleotide variations (SNVs) which can be easily mapp
会议
特发性基底节钙化(Idiopathic basal ganglia calcification,IBGC)是一种以基底节及大脑其他部位钙化为特征的神经系统遗传疾病,患者可出现运动障碍及认知、精神异常,尚无有效药物治疗。本研究通过家系连锁分析和候选基因克隆,发现导致该疾病发生的第一个致病基因SLC20A2,目前发现有40%的IBGC患者因携带SLC20A2突变致病,提示该基因为IBGC最常见的致病基
Osterix (Osx) , a C2H2-type zinc-finger containing transcription factor, plays an essential role in controlling osteoblast differentiation and bone formation.The precise molecular regulation of Osx ex
DAX1 is an orphan nuclear receptor that plays a key role in the development and function of the adrenal and reproductive axes.Mutations in the gene encoding DAX1 (NROB1) result in X-linked adrenal hyp
会议