发明名称 |
NON-INVASIVE PRENATAL SCREENING |
摘要 |
The present invention is concerned with prenatal screening and in particular non-invasive prenatal screening, as well as primers, primer sets and kits. In one instance, the invention provides a method of prenatal screening comprising: (a) amplifying a region encompassing the site of a mutation site responsible for the disorder, the amplification being performed on a DNA sample obtained from a pregnant female which comprises both maternal and fetal DNA; (b) sequencing a plurality of products from the amplification and determining whether or not the mutant allele is represented at a different frequency to that expected from the genotype of the pregnant female alone. |
申请公布号 |
US2016053320(A1) |
申请公布日期 |
2016.02.25 |
申请号 |
US201414774865 |
申请日期 |
2014.03.14 |
申请人 |
ISIS INNOVATION LIMITED |
发明人 |
SCHUH Anna;HENDERSON Shirley Jane |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
代理机构 |
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代理人 |
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主权项 |
1. A method of prenatal screening comprising:
(a) amplifying a region encompassing the site of a mutation responsible for the disorder, the amplification being performed on a DNA sample obtained from a pregnant female which comprises both maternal and fetal DNA; and (b) sequencing a plurality of products from the amplification and determining whether or not the mutant allele is represented at a different frequency to that expected from the genotype of the pregnant female alone. |
地址 |
Oxford GB |