Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1994-12-22
1997-04-08
Zitomer, Stephanie W.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 911, 435 912, 4352851, 4352872, 436501, C12P 1934, C12Q 100, C12Q 168
Patent
active
056186711
DESCRIPTION:
BRIEF SUMMARY
FIELD OF THE INVENTION
The present invention relates to molecular-biological diagnostics, and more particularly to a novel method and system for analysing mutations or well-defined genetic events in coding DNA-sequences or corresponding RNA-sequences.
BACKGROUND OF THE INVENTION
The mammalian gene structure is based on coding DNA-sequences (exons) and intervening sequences (introns). Disturbances or changes (mutations) in the coding sequences result in abnormal gene products and thus malfunction and disease. Today, more than 4500 diseases are known which are due to defects in single genes. Such defects may be stable mutations, i.e. they always occur in specific, predictable positions, but may also be unstable genetic events occurring at one or more of a number of different unpredictable locations in the gene. In many cases the cause of a specific genetic disease may be stable or unstable events in any one of a number of exons. Detailed genetic information on an individual will tell about the susceptibility for disease, confirm inherited disorders, confirm disease status and serve as a guidance for more efficient treatment.
In the case of stable and thereby predictable mutations, methods permitting the determination of a specific polynucleotide sequence may be used, whereas the detection of unstable genetic events will require a DNA (or RNA) sequencing operation on the exon or exons in question. It is readily understood that with current methods, the determination of genetic diseases which may be due to one of several possible stable and unstable mutations will be laborious and time-consuming, requiring inter alia a great number of pipetting operations. The reproducibility will therefore be highly dependent on the skill of the operator. Besides, only a few commercial tests are available today for such genetic diseases, which tests, apart from being relatively complicated to perform, have a rather low accuracy.
Co-pending Swedish patent application 9203320-8 discloses a method of performing molecular-genetic reactions using a patrix-matrix type system, wherein the matrix part usually is a microtiter plate and the patrix part is a plate having a plurality of protrusions or extensions, each matching a respective well of the microtiter plate. The extensions are used as solid phase elements, each capable of binding a specific nucleic acid sequence from a solution and then keep it immobilized thereto for further processing or reaction by inserting the assembly of extensions into further microtiter wells. Such a system will permit a plurality of reactions to be performed simultaneously with reduced risk of contamination between reactions. While the use of the system for diagnostics tests is described in general, there is only a specific disclosure of the determination of stable mutations.
SUMMARY OF THE INVENTION
The present invention seeks to provide a novel method and system, respectively, for molecular-biological diagnostics, partially based upon the basic concept of the afore-mentioned Swedish patent application 9203320-8, which are devoid of the disadvantages of the prior art methods for molecular-biological diagnostics and which permit exon-specific determination of both stable and unstable mutations.
Thus, one object of the present invention is to provide an integrated assay format for the analysis of point mutations or well-defined genetic events in exons, i.e. coding DNA-sequences, or corresponding RNA sequences.
Another object is to provide a method and system for exon-specific testing which permit standardisation, high reproducibility and operator-adapted handling routines.
Still another object is to provide a method and system capable of providing all exon-specific testing with very high security (more than 95%) independently of the genetic disease, i.e. stable mutations as well as unstable genetic events.
A further object is to provide a method and system for exon-specific testing which basically are free of pipetting operations.
The above-mentioned objects are achieved with a method and system
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Pharmacia Biotech AB
Tran Paul B.
Zitomer Stephanie W.
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