Heterozygote screening process

Details Heterozygote screening process Heterozygote screening process

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2311526

In order to facilitate the screening of an organism, or a population of organisms, carrying heterozygous mutations for identifying the presence of a mutation in a gene of interest, a process is provided which utilises mismatch binding proteins, such as MutS. The process comprises the steps of: obtaining a nucleic acid sample from the organism; denaturing any double stranded nucleic acid present in the sample; allowing the nucleic acid to anneal; and removing homoduplexes from the annealed sample. A positive signal from a probe specific for the gene of interest indicates that the organism carries a heterozygous mutation in said gene.

Afin de faciliter le criblage d'un organisme, ou d'une population d'organismes, portant des mutations hétérozygotes en vue de l'identification d'une mutation dans un gène considéré, l'invention concerne un procédé utilisant des protéines de liaison mésappariés, telles que MutS. Ledit procédé, en plusieurs étapes, consiste à: prélever un échantillon d'acide nucléique sur l'organisme; à dénaturer n'importe quel acide nucléique à double brin présent dans l'échantillon; à permettre la renaturation de l'acide nucléique; et à éliminer les homoduplex de l'échantillon renaturé. Un signal positif en provenance d'une sonde spécifique au gène considéré indique que l'organisme porte une mutation hétérozygote dans ledit gène.

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