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:lxj5186101
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  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.
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