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Disease

PATENT APPLICATION PROTECTING GENOTYPING KIT FOR Huntington’s disease (HD)

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PATENT APPLICATION PROTECTING GENOTYPING KIT FOR Huntington’s disease (HD)

ABSTRACT

This invention is based on two variants which include GRCh38/hg38 4p16.3-16.1 (chr4:36424-7359817) as well as GRCh38/hg38 4p16.3 (chr4:36424-3881330).One of the variant GRCh38/hg38 4p16.3, which is ADD1 (Adducin 1), also known as ADDA. The type of genes in this invention is protein-coding. ADD 1 contains ubiquitous expressions in the brain ovary (RPKM 51.1), (RPKM 57.3) in the brain as well as 25 other tissues. The exon count is 19 and the location is 4p16.3. Moreover, this invention makes use of genome data viewer to establish a DNA region the surrounds each of the two selected variants.

DESCRIPTION

The technical field for this genotyping kit is a present disclosure in the field of gene expression and genome editing. In this case, two variants have been selected and include: GRCh38/hg38 4p16.3 (chr4:36424-3881330) as well as GRCh38/hg38 4p16.3-16.1 (chr4:36424-7359817. In the variant, GRCh38/hg38 4p16.3 is one of the selected genes, which is ADD1 (Adducin 1), and is also referred to as ADDA. In the protein, the gene type ADD1 has ubiquitous expression in the brain (RPKM 57.3), ovary (RPKM 51.1) as well as 25 other tissues. The location is 4p16.3, and the exon count is 19. The selected disease is Huntington’s disease (HD), and this is a progressive disorder of motor, psychiatric as well as cognitive disturbances. The onset of this disease is at the age of 35-44 years, but about 10% of the cases happen before the age of 21 years and a lifespan post-diagnosis of 15-18 years. The prevalence of this disease is about 3 to 7 among 1001,000 individuals of western European descent. The symptoms of Huntington’s Disease include; difficulties in the physical production of speech or swallowing, involuntary jerking or writhing movements (chorea), Impaired gait balance as well as posture, problems with muscles such as muscle contracture or rigidity (dystonia), abnormal or slow eye movements. Diagnostic imaging is an alternative diagnosis for Huntington’s disease, especially if the individual’s genetic testing, as well as family history, are inconclusive practitioners may recommend brain imaging such as magnetic resonance imaging (MRI) as well as computed tomography (CT). With the progression of Huntington’s disease, the scans are able to reveal shrinkage of cortex parts, stratum as well as fluid-filled cavities enlargement within the brain, which is known as ventricles.

Nonetheless, these changes are not an automatic indication of HD since they can occur in other disorders. Moreover, the individual might have early HD symptoms and yet indicate normal findings on MRI scans or structural CT. As per the contribution of my invention, two suitable primers were designed for the purpose of amplifying each of the selected DNA regions. Moreover, there was an indication of the expected nucleotide with the presence of the variant of interest. The feedback from the sequencing center showed the identity of the nucleotide at the mutation point where the variant is located. The figures below, therefore, indicate the expectations of the two PCR products. These are usually short pieces of single-stranded DNA typically around 20nucleotide in length. The two premiers have been used in each PCR reaction and have been designed in a way that they flank the targeted regions.

 

 

In this invention, for instance, various compositions, as well as methods, have been used for the targeted cleavage of the genomic DNA as described. These events of the targeted cleavage can be used to induce targeted mutagenesis, facilitated targeted recombination at a predetermined chromosomal locus, as well as the deletions of cellular DNA sequences.

CONCLUSION

This is a useful invention as the guidelines are not to be interpreted as restrictive or rather the only approach available for HD testing but to offer a helpful guide. Undoubtedly, most credential laboratory specialists are flexible in utilizing any design as well as testing platforms with considerable latitude. In my case therefore, I felt it was significant to make use of technique-specific guidelines of various current technologies that are applicable in laboratories that offer HD testing since the technologies discussed are commercially available and are therefore widely utilized.

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