Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Reexamination Certificate
2007-04-03
2007-04-03
Switzer, Juliet C. (Department: 1634)
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
C435S091200
Reexamination Certificate
active
10408501
ABSTRACT:
The invention relates generally to polymorphisms or mutations of the PHOX2B gene. More particularly, the invention relates to polymorphisms or mutations of the PHOX2B gene that are responsible for the disease Hirschsprung's disease (HSCR), which is a neural crest-associated developmental disorder. Specifically, the invention relates to the detection of a single base-pair polymorphism in the PHOX2B gene that is associated with HSCR. The invention also relates to methods and kits for screening for carriers of mutations of the PHOX2B gene and the diagnosis of increased risk of HSCR. The invention further relates to diagnosing predisposition or susceptibility to increased risk of developing HSCR by screening for the presence of a polymorphism associated with HSCR. The invention also relates to compositions for screening for the polymorphism and treatment choices for patients having the polymorphism of the present invention. The invention further relates to providing polymorphisms in the PHOX2B gene for forensic use and in paternity test. The invention also relates to screening assays and therapeutic and prophylactic methods.
REFERENCES:
Yokoyama et al (1999), Genomics 59, pp. 40-50.
Amiel et al (2001), Journal of Medical Genetics 38, pp. 729-739.
Hofstra et al (1997) European journal of Human Genetics 5, pp. 180-185.
Parisi et al (2000) Current Opinions in Pediatrics 12, pp. 610-617.
Pattyn et al (1999) Nature 399, pp. 366-370.
Gaultier et al (2005) Pediatric Research, vol. 58, No. 1, pp. 1-5.
By Andrew Chin, “On the preparation and utilization of isolated and purified oligonucleotides”, published Mar. 14, 2002 at Kathrine R. Everett Law Library of the University of North Carolina (submitted herewith in a form of CD-ROM and a partial written description (2 pages) from the CD-ROM).
Chen Benedict Ling Sze
Garcia-Barcelo Maria Mercedes
Lui Vincent Chi Hang
Sham Mai Har
Tam Paul Kwong Hang
Kapushoc Stephen
Switzer Juliet C.
The University of Hong Kong
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