Reliable Detection of Paternally Inherited Fetal Point Mutations in Maternal Plasma by the Use of Si

来源 :2005 World DNA and Genome Day(2005中国(大连)国际DNA和基因组节大会) | 被引量 : 0次 | 上传用户:focus2316acn
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
  Currently fetal DNA in maternal plasma cannot be used for the reliable analysis of fetal alleles involving point mutations.We have recently shown that a selective enrichment of fetal DNA sequences can be achieved on the basis that fetal DNA molecules are smaller than maternal sequences.We investigated whether this approach may be useful for the prenatal analysis of fetal single gene point mutations.We used β-thalassemia as a model.Four common β-thalassemia point mutations:IVSI-110,IVSI-1,IVSI-6 and codon 39,were examined.
其他文献
All organisms contain thousands of proteins and peptides in their body fluids.A deeper insight into the distribution and the functional relevance of these polypeptides under different physiological an
会议
CdGAP (Cdc42 GTPase-activating protein) is a negative regulator of the small GTPases Racl and Cdc42,members of the Rho family of small GTPases.These proteins play a crucial role in many cytoskeletal-d
会议
Laboratory Medicine is a science involved in more than seventy percent of patient diagnosis.The evolution of Laboratory Medicine is constant and an important motor of such evolution is the assimilatio
会议
You have already spent years of research and development and substantial financial resources to get your product to market.As soon as your product enters the market,you receive a threatening letter fr
会议
Mast cells are central effectors of allergic and inflammatory reactions.When triggered,mast cells secrete a large array of pre-stored inflammatory mediators including vasoactive amines such as histami
会议
Human islet amyloid polypeptide (lAPP) or amylin is a 37-residue major protein contributor of the amyloid deposits found in the pancreases of type-Ⅱ diabetes patients.Amylin contains a disulfide bridg
会议
With the acquisition of Esperion in early 2004,the Pfizer Global Biologics group inherited the ETC216 project with a mandate of using the manufacturing process developed by Esperion to generate fresh
会议
In biology,it is known that transition metal ions bind to proteins.Transition metal compounds play structural and catalytic roles in gene expression.The metalloregulatory proteins are a subclass that
会议
Recombinant virus-like particles (VLPs) harbouring foreign epitopes at certain surface-exposed positions are highly immunogenic.Recently,we have demonstrated that hamster polyomavirns major capsid pro
会议
Human β-amyloid (1-42) peptide is a major component of the plaque deposits found in the brains of Alzheimers disease patients.Synthesis of the β-amyloid (1-42) peptide by conventional solid phase pept
会议