利用PiggyBac转座子插入胚胎致死突变小鼠库对致出生缺陷新候选基因的筛查

来源 :2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 | 被引量 : 0次 | 上传用户：xsb

【摘要】

：

神经管畸形(Neural Tube Defects,NTD)、先天性心脏病(Congenital Heart Diseases,CHD)等均是我国发病率居前的重大出生缺陷.内在遗传因素在这些疾病的发生中占重要地位,如超过70％的NTD的发生可归于遗传因素.深入明确这些重大出生缺陷的遗传机制,建立产前基因筛查清单,是降低其发生率的重要因素.罕见相关家系一定程度上限制了通过家系研究发现致病的基因变异.

【作者】

：

史植文刘伟奇刘娇娇王春燕景迎春陈淑霞徐虹吴晓晖王红艳郑煜芳

【机构】

：

复旦大学生命科学学院,上海200438 复旦大学附属儿科医院,上海200032

【出处】

：

2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议

【发表日期】

：

2014年3期

下载到本地 , 更方便阅读

下载此文赞助VIP

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

其他文献

A Rare Co-occurrence of Crigler-Najjar Syndrome Ⅰ along with X-linked Ichthyosis in a male patient:

Background: Crigler-Najjar syndrome (CN-I) is a very rare autosomal recessive disease caused by the homozygous or compound heterozygous mutations of UPD-glucuronosyl-transferase 1A1 gene (UGT1A1) on c

会议

One exonic missense mutation in SMN1 gene affects splicing and is responsible for spinal muscular at

Background: Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder resulting in death during childhood.Around 81 ～ 95％ of SMA cases are a result of homozygous deletions of survival

会议

A variant within intron 1 of PTPN22 gene decreases the genetic susceptibility of Ankylosing Spondyli

Objective: The protein tyrosine phosphates non-receptor type 22 (PTPN22) were generally accepted as a key factor to maintain immune cellular homeostasis.No association was shown between polymorphisms

会议

Mutations in the splicing factor gene prp-8 might be novel suppressors of the temperature-sensitive

Pre-mRNA splicing is a key regulatory step of eukaryotic gene expression.The splicing machinery consists of five RNA-protein complexes named small nuclear ribonucleoprotein particles (snRNPs) (U 1, U2

会议

Prognostic significance ofXRCC1 gene polymorphism in diffuse-type gastric cancer in the Chinese popu

We genotyped 1022 surgically resected gastric cancer patients to investigate the prognostic effect of XRCC1 Arg194Trp polymorphism (rs1799782) on gastric cancer in the Chinese population.We found that

会议

妊娠期糖尿病患者胎盘超微结构研究

目的:妊娠期糖尿病(GDM)患者可能存在胎盘环境异常,进而造成一些胎盘结构改变,并影响胎盘发育和功能.因此,本研究旨在确定GDM胎盘中是否存在结构改变.设计:比较GDM及正常妊娠者的足月胎盘的超微结构变化.方法:本研究纳入10例GDM及10例正常对照,经过知情同意后分别取其足月妊娠胎盘,分别应用光学显微镜(light microscopy,LM)和投射电子显微镜(transmission elec

会议

BNIP3 Induces Full-length PINK1 Accumulation to Promote Mitophagy

Mutations in PINK1 cause early onset familial Parkinsons disease (PD).PINK1 is accumulated on followed by recruiting parkin to the outer membrane of damaged mitochondria to promote mitophagy.Here, we

会议

Solute carrier family 26 member a2 (slc26a2) regulates otic development and hair cell survival in ze

Background: Hearing loss is one of the most prevalent human birth defects.Genetic factors contribute to the pathogenesis of deafness.It is estimated that one-third of deafness genes have already been

会议

Grhl1 deficiency affects the inner ear development in zebrafish

Background Many genes that have been found to contribute to deafness are currently being studied.Some 80 non-syndromic hereditary deafness genes have been confirmed.Proteins associated with cochlear d

会议

UBE2C在斑马鱼胚胎发育过程中的功能研究

目的:本课题旨在观察ube2c在斑马鱼胚胎发育过程中的时空表达规律,并对其功能进行研究.方法:选择2hpf(受精后2h)、4hpf、 Shpf、12 hpf、 24 hpf、 48 hpf、 72 hpf、7dpf(受精后7d)的斑马鱼胚胎,进行Real-Time RCR、westem blot对ube2c在不同时间段的表达检测;对各时期胚胎进行整胚原位杂交,观察ube2c在斑马鱼不同时期胚胎中时

会议

利用PiggyBac转座子插入胚胎致死突变小鼠库对致出生缺陷新候选基因的筛查

与本文相关的学术论文