Diagnosis of Williams syndrome

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Patent

Rate now

  [ 0.00 ] – not rated yet Voters 0   Comments 0

Details

435 911, 435270, 435968, 436 94, 536 235, 536 2431, 536 231, 536 2433, 935 78, C12Q 168, C12P 1934, C07H 2104, C12N 1500

Patent

active

056502826

ABSTRACT:
The invention relates to the identification of the molecular basis of supravalvular aortic stenosis (SVAS) and Williams syndrome. More specifically, the invention has identified that elastin causes or is involved in the pathogenesis of SVAS and Williams syndrome. Molecular variants of the elastin gene contribute to SVAS and Williams syndrome. The analysis of the elastin gene will provide an early diagnosis of subjects with SVAS and Williams syndrome. The diagnostic method comprises analyzing the DNA sequence of the elastin gene of an individual to be tested and comparing it with the DNA sequence of the native, non-variant elastin gene. In a second embodiment, the elastin gene of an individual to be tested is screened for mutations associated with SVAS or Williams syndrome. Presymptomatic diagnosis of SVAS and Williams syndrome will enable practitioners to prevent vascular obstruction using existing medical therapies like beta adrenergic blocking agents.

REFERENCES:
Curran et al., "The Elastin Gene is Disrupted by a Translocation Association with Supravalvular Aortic Stenosis," cell, vol. 73, pp. 159-168. Apr. 9, 1993.
Bashir, M.M. et al. (1989). "Characterization of the Complete Human Elastic Gene," J. Biol. Chem., 264:8887-8891.
Curren, M.E. et al. (1993). "The Elastin Gene Is Disrupted by a Translocation Associated with Supravalvular Aortic Stenosis," Cell 73:159-168.
Ewart, A.K. et al. (1993). "A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7," Proc. Natl. Acad. Sci. USA 90:3226-3230.
Fazio, M.J. et al. (1991). "Human Elastic Gene: New Evidence for Localization to the Long Arm of Chromosome 7," Am. J. Hum. Genet. 48:696-703.
Fazio, M.J. et al. (1988). "Cloning of Full-length Elastin cDNAs from a Human Skin Fibroblast Recombinat cDNA Library: Further Elucidation of Alternative Splicing Utilizing Exon-specific Oligonucleotides," J. Investigative Dermatology 91:458-464.
Indik, Z. et al. (1987). "Alternative splicing of human elastic mRNA indicated by sequence analysis of cloned genomic and complementary DNA," Proc. Natl. Acad. Sci. USA 84:5680-5684.
Indik, Z. et al. (1987), "Structure of the 3' Region of the Human Elastin Gene: Great Abundance of Alu Repetitive Sequences and Few Coding Sequences," Connective Tissue Research 16:197-211.
O'Connor, W. et al. (1985). "Supravalvular Aortic Stenosis," Arch. Pathol. Lab. Med. 109:179-185.
Perou, M. (1961). "Congenital Supravalvular Aortic Stenosis," Arch. Pathol. 71:113-126.
Rosenbloom, J. et al. (1991). "Elastin Genes and Regulation of Their Expression," Critical Reviews in Eukaryotic Gene Expression 1:145-156.
Sandberg, L. et al. (1981). "Elastin structure, biosynthesis, and relation to disease states," N. Engl. J. Med. 304:566-579.
Tromp, G. et al. (1991). "A to G polymorphism in ELN gene," Nucl. Acids Res. 19:4314.
Uitto, J. et al. (1991). "Molecular biology and pathology of human elastin," Biochem. Soc. Trans. 19:824-829.
Yeh, H. et al. (1987). "Sequence variation of bovine elastin mRNA due to alternative splicing," Coll. Relat. Res. 7:235-247.
Yoon, K. et al. (1985). "Analysis of the 3' region of the sheep elastin gene," Arch. Biochem. Biophys. 241: 684-691.

LandOfFree

Say what you really think

Search LandOfFree.com for the USA inventors and patents. Rate them and share your experience with other people.

Rating

Diagnosis of Williams syndrome does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Diagnosis of Williams syndrome, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Diagnosis of Williams syndrome will most certainly appreciate the feedback.

Rate now

     

Profile ID: LFUS-PAI-O-1559329

  Search
All data on this website is collected from public sources. Our data reflects the most accurate information available at the time of publication.