【摘 要】
:
Epidemiological evidence indicates that artificial reproduction technology (ART) may be associated with several epigenetic diseases such as Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome
【机 构】
:
Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Third Affiliat
论文部分内容阅读
Epidemiological evidence indicates that artificial reproduction technology (ART) may be associated with several epigenetic diseases such as Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome (SRS).
其他文献
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)、
Medical genetics and genomics is a newly developed clinical specialty built upon accumulated knowledge of human genetics and discoveries of thousands of genetic disorders.
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
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
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
Background: The aim was to determine the degree of chromosomal aberrations in the sperm of men with hepatitis C, develop a better experimental model which could facilitate further studies assessing th
Copy number variations (CNVs) have increasingly been reported to cause, or predispose to, human disease.However, a large fraction of these CNVs have not been accurately characterized at the single-bas