Detection of human .alpha.-thalassemia mutations and their use a

Details Detection of human .alpha.-thalassemia mutations and their use a Detection of human .alpha.-thalassemia mutations and their use a

1995-10-31

1998-05-12

Jones, W. Gary

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 536 2433, 935 77, 935 78, C12Q 168, C12P 1934, C07H 2104

Patent

active

057503451

ABSTRACT:
The invention is based on the discovery that adults having a genotype comprising a hemoglobin .alpha.-gene deletion are significantly more likely to be hypertensive than adults having a normal (.alpha..alpha./.alpha..alpha.) gentoype. The invention provides an improved method for determining a human subject's genotype at the .alpha.-gene loci; a method of screening a human subject for an increased potential of developing hypertension and other blood-related disorders; and provides an apparatus/kit for screening a human subject for a risk of developing hypertension and other blood-related disorders.

REFERENCES:
patent: 5075216 (1991-12-01), Innis et al.
patent: 5281519 (1994-01-01), Schechter et al.
Chen et al. Acta Haematologia 90:177-181 (1993).
Adams et al. American Journal of Hematology 45:279-282 (1994).
Borriello et al. Diagnostic Molecular Pathology 3(4):246-254 (Dec. 1994).
Nath et al., "Enzyme Studies for Carbohydrate Metabolism In Thalassaemia and Some Other Clinical Conditions," Enzymologia 31(5):296-308 (1966).
Cossu et al., "HLA and 5' HVR insulin gene polymorphisms in thalassemia major patients with diabetes mellitus," Diabetes Nutrition & Metabolism Clinical & Experimental, 4(2):101-6 (Jun. 1991).
Harano et al., "HB Kurosaki: a new alpha chain variant found in Japanese woman," Hemoglobin, 19(3 & 4):197-201 (1995).
Miyashita, et al., "HB Kanagawa: A new alpha chain variant with an increased oxygen affinity," Hemoglobin, 16(1 & 2):1-10 (1992).
Powars, "Sickle Cell Anemia: Beta-S-Gene-Cluster Haplotypes as Prognostic Indicators of Vital Organ Failure," Seminars in Hematology, 28(3):202-8 (Jul. 1991).
Witte, "Hereditary Hemochromatosis: Chemistry and Laboratory Leadership Aids Early Detection," American Association for Clinical Chemistry Endo, 13(1):13-22 (Jan. 1995).
Gordeuk, et al., "Iron Overload In Africa--Interaction between a Gene and Dietary Iron Content," The New England Journal of Medicine, 326(2):95-100 (Jan. 9, 1992).
Alberts et al., Molecular Biology of the Cell, Second Edition, New York: Garland Publishing, pp. 270-271, (1989).
Bauer et al., "Genital Human Papillomavirus Infection in Female University Students as Determined by a PCR-Based Method," JAMA, 265(4):472-477 (Jan. 23/30 1991).
Baysal and Huisman, "Detection of Common Deletional .alpha.-Thalassemia-2 Determinants by PCR," Am. J. Hematol., 46:208-213 (1994).
Bowden et al., "A PCR-based strategy to detect the common severe determinants of .alpha. thalassaemia," Br. J. Haematol., 81:104-108 (1992).
Bowie et al., "Detection of .alpha.-Thalassemias by Multiplex Polymerase Chain Reaction," Clin. Chem., 40(12):2260-2266 (1994).
Bowie et al., "Diagnosis of Alpha Thalassemia Syndromes Using Multiplex Polymerase Chain Reaction (M-PCR) Methods," Annales de Biologie Clinque 51:422 (1993) (ABSTRACT 152).
Crowley et al., "Whole Blood Viscosity in Beta Thalassemia Minor," Annals. Clin. Lab. Sci., 22(4):229-235 (1992).
Dode et al., "Locus assignment of human .alpha. globin mutations by selective amplification and direct sequencing," Br. J. Haematol., 76:275-281 (1990).
Dozy et al., ".alpha.-Globin gene organisation in blacks precludes the severe form of .alpha.-thalassaemia," Nature, 280:605-607 (Aug. 16, 1979).
Drmanac et al., "DNA Sequence Determination by Hybridization: A Strategy for Efficient Large-Scale Sequencing," Science, 260:1649-1652 (Jun. 11, 1993).
Embury et al, "Two Different Molecular Organizations Account for the Single .alpha.-Globin Gene of the .alpha.-Thalassemia-2 Genotype," J. Clin. Invest., 66:1319-1325 (Dec. 1980).
Fowlow et al., "A Medical Genetic Survey of a Hutterite Population," Can. J. Gen. Cytol. 15(3):657 (1973).
GENBANK Report for Locus HUMHBA1, "Human Alpha Globin Gene Cluster on Chromosome 16: Zeta Gene," Accession Nos. J00182 and J00181, (Nov. 17, 1994).
GENBANK Report for Locus HUMHBB, "Human Beta Globin Region on Chromosome 11," Accession Nos. U01317, J00179, J00093, J00094, J00096, J00158, J00159, J00160, J00161, J00162, J00163, J00164, J00165, J00166, J00167, J00168, J00169, J00170, J00171, J00172, J00173, J00174, J00175, J00177, J00178, K01239, K01890, K02544, M18047, M19067, M24868, M24886, X00423, X00424, X00672 (Jan. 20, 1994).
Grim et al., "High Blood Pressure in Blacks: Salt, Slavery, Survival, Stress, and Racism," Hypertension: Pathophysiology, Diagnosis, and Management. Second Edition, Laragh and Brenner (Eds.), New York: Raven Press, Ltd., Chapter 12 (1995).
Higgs, "The thalassaemia syndromes," Q.J. Med., 86:559-564 (1993).
Higgs et al., "A Review of the Molecular Genetics of the Human .alpha.-Globin Gene Cluster," Blood, 73(5):1081-1104 (Apr. 1989).
Higgs et al., "Independent recombination events between the duplicated human .alpha. globin genes; implications for their concerted evolution," Nucl. Acids Res., 12(18):6965-6977 (1984).
James and Baker, "Human Population Biology and Blood Pressure: Evolutionary and Ecological Considerations and Interpretations of Population Studies," Hypertension: Pathophysiology, Diagnosis, and Management. Second Edition, Laragh and Brenner (Eds.), New York: Raven Press, Ltd., Chapter 8 (1995).
Kan, "Development of DNA Analysis for Human Diseases: Sickle Cell Anemia and Thalassemia as a Paradigm," JAMA, 267(11):1532-1536 (Mar. 18, 1992).
Kazazian, "The Thalassemia Syndromes: Molecular Basis and Prenatal Diagnosis in 1990," Sem. Hemotol., 27(3):209-228 (Jul. 1990).
Lebo et al., "Prenatal diagnosis of .alpha.-thalassemia by polymerase chain reaction and dual restriction enzyme analysis," Hum. Gen., 85:293-299 (1990).
Leckie, "High Blood Pressure: Hunting the Genes," Bio-Essays, 14(1):37-41 (Jan. 1992).
Lewin and Stewart-Haynes, "A Simple Method for DNA Extraction from Leukocytes for Use in PCR," BioTechniques, 13(4):522-523 (1992).
Liehaber, ".alpha. Thalassemia," Hemoglobin, 13(7&8):685-731 (1989).
Lubin et al., "Precise gene dosage determination by polymerase chain reaction: theory, methodology, and statistical approach," Mol. Cell. Probes, 5:307-317 (1991).
Lundeberg et al., "Rapid Colorimetric Quantification of PCR-Amplified DNA," BioTechniques, 10(1):68-75 (1991).
McCarron et al., "High Blood Pressure," Scientific American Medicine, New York, Scientific American, Inc., Chapter 1, Part VII, pp. 1-32 (1993).
Mirzabekov, "DNA sequencing by hybridization-a mega sequencing method and a diagnostic tool?," TIBTECH, 12:27-32 (Jan. 1994).
Nagabhusban et al., "Molecular Diagnosis of Alpha Thalassemia and Beta Chain Hemoglobinopathies Using Multiplex PCR (MPCR) and Automated DNA Sequencing," Clin. Chem. 38:1182 (1993) (ABSTRACT 0291).
Nierman, et al. (eds.), ATCC/NIH Repository Catalogue of Human and Mouse DNA Probes and Libraries, Seventh Edition, American Type Culture Collection, Rockville, Maryland, p. 117, (1993).
Reddy et al., "An Association Between Hypertension and the `Silent Carrier` State for Alpha Thalassemia," The 1994 San Diego Conference: The Genetic Revolution, San Diego, CA, Nov. 18, 1994 (ABSTRACT ONLY).
Sambrook et al., Molecular Cloning-A laboratory Manual, Second Edition, Cold Spring Harbor: Cold Spring Harbor Press, Chapters 7, 9, 13 (1989).
Schrier and Mohandas, "Globin-Chain Specificity of Oxidation-Induced Changes in Red Blood Cell Membrane Properties," Blood, 79(6):1586-1592 (Mar. 15, 1992).
Schultz et al., "A role for endothelin and nitric oxide in the pressor response to diaspirin cross-linked hemoglobin," J. Lab. Clin. Med., 122(3):301-308 (Sep. 1993).
Wang et al., "Myocardial Infarction and thalassemia Trait: An Example of Heterozygote Advantage," Amer. J. Hematol. 49:73-75 (1995).
Williamson, "The Molecular Basis of Human Genetic Disease-Deletion, Misprocessing, Termination," J. Cell Biochem. 0(9Part A):31 (1985) (ABSTRACT 0069).

Affiliated with

Also associated with

Rating

Detection of human .alpha.-thalassemia mutations and their use a does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Detection of human .alpha.-thalassemia mutations and their use a, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Detection of human .alpha.-thalassemia mutations and their use a will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-978272