Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1996-04-16
1998-01-27
Guzo, David
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
536 235, 536 243, C12Q 168, C07H 2104
Patent
active
057120986
ABSTRACT:
A single base-pair polymorphism involving a mutation from Guanine (G), in individuals unaffected by the hereditary hemochromatosis (HH) gene defect, to Adeninc (A), in individuals affected by the HH gene defect is disclosed. The presence or absence of the polymorphic allele is highly predictive of whether an individual is at risk from HH: the polymorphism is present in 82% of affected individuals and only 4% of a random population screen. Methods of diagnosis, markers, and primers are disclosed and claimed in accordance with the present invention.
REFERENCES:
Jazwinska and Powell Hemochromatosis and "HLA-H": definite| Hepatology. vol. 25(2):495-496, Feb. 1997.
Feder, et. al.. A novel MHC class I-like gene is mutated in patients with a hereditary haemochromatosis. Naure Genetics. vol. 13:399-408, Aug. 1996.
Bacon, B.R., "Causes of Iron Overload," N. Eng. J. Med. 326(2):126-127 (1992).
Cartwright, G.E. et al., "Inheritance of Hemochromatosis: Linkage to HLA," Trans. Assoc. Am. Phys. 91:273-281 (1978).
Edwards, C.Q. et al., "Screening for Hemochromatosis," N. Eng. J. Med. 328(22):1616-1619 (1993).
Finch, C.A., "Hemochromatosis--Treatment is Easy, Diagnosis Hard," West. J. Med. 153(3):323-325 (19980).
Gyapay, G. et al., "The 1993-94 Genethon human genetic linkage map," Nature Genetics 7:246-338 (1994).
Jazwinska, E.C. et al., "Localization of the Hemochromatosis Gene Close to D6S105," Am. J. Hum. Genet. 53:347-352 (1993).
Jazwinska, E.C. et al., "Haplotype Analysis oin Australian Hemochromatosis Patients: Evidence for a Predominant Ancestral Haplotype Exclusively Associated Hemochromatosis," Am. J. Hum. Genet. 56:428-433 (1995).
Lipinski, M. et al., "Idiopathic Hemochromatosis: Linkage with HLA," Tissue Antigens 11:471-474 (1978).
Lovett, M. et al., "Direct selection: A method for the isolation of cDNAs encoded by large genomic regions," Proc Natl. Acad. Sci. U.S.A. 88:9628-9632 (1991).
Nikiforov, T.T. et al., "Genetic Bit Analysis: a solid phase method for typing single nucleotide polymorphisms," Nucl. Acids Res. 22(20):4167-4175 (1994).
Phatak, P.D. et al., "Cost-effectiveness of Sceening for Hereditary Hemochromatosis," Arch. Intern Med. 154:769-776 (1994).
Simon,M. et al., "A Stody of 609 HLA Haplotypes Marking for the Hemochromatosis Gene: (1) Mapping of the Gene near the HLA-A Locus and Characters Required to Define a heterozygous Population and (2) Hypothesis Concerning the Underlying Cause of Hemochromatosis-HLA Association," Am. J. Hum. Genet. 41:89-105 (1987).
Stone, C. et al., "Isolation of CA dinucleotide repeats close to D6S105; linkage disequilibrium with haemochromatosis," Hum. Molec. Genet. 3(11):2043-2046 (1994).
Summers, K.M. et al., "HLA Determinants in an Australian Population of Hemochromatosis Patients and Their Families," Am. J. Hum. Genet. 45:41-48 (1989).
Worwood, M. et al., "Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype," Br. J. Haemat. 86:863-866 (1994).
Drayna Dennis T.
Feder John N.
Gnirke Andreas
Ruddy David
Thomas Winston J.
Guzo David
Mercator Genetics
Sandals William
LandOfFree
Hereditary hemochromatosis diagnostic markers and diagnostic met does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Hereditary hemochromatosis diagnostic markers and diagnostic met, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Hereditary hemochromatosis diagnostic markers and diagnostic met will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-340808