Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1995-11-06
1998-03-03
Sisson, Bradley L.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 6, 435 912, 435810, 436501, 436520, 436 68, 536 231, 536 235, 536 2431, 536 2433, 935 77, 935 78, C12Q 168, G01N 33555, C07H 2104, C12N 1500
Patent
active
057232938
ABSTRACT:
The invention provides a diagnostic method of determining Rh genotypes by the identification of the molecular basis of Rh polymorphisms. Specifically, the invention provides a method for directly determining Dd and associated CcEe genotypes with great accuracy, overcoming problems associated with traditional serologic typing methods and leading to a direct discrimination of D/D, D/d, and d/d genetic status. The diagnostic method allows genotyping of fetuses to assess the risk of hemolytic diseases caused by Rh alloimmunization and genetic counseling and/or testing of couples to predict the outcome of pregnancies in relation to Rh incompatibilities. The method of the invention preferably employs amplification of Rh nucleic acid sequences, and employs differential cleavage of RhD-, RhCc- and/or RhEe-specific nucleic acid sequences by a restriction enzyme. Furthermore, diagnostic kits for the determination of Rh genotypes are provided.
REFERENCES:
Luban NLC, "The new and the old--Molecular diagnostics and hemolytic disease of the newborn", New England J Med 329(9):658-60 (1993).
Agre P, and Cartron J-P, "Molecular biology of the Rh antigens", Blood 78:551-63 (1991).
Cartron J-P, and Agre P, "Rh blood group antigens: protein and gene structure", Semin Hematol 30:193-208 (1993).
Anstee DJ, and Tanner MJ, "Biochemical aspects of the blood group Rh (rhesus)antigens", Baillieres Clin Haematol 6:402-22 (1993).
Race RR, and Sanger R, Blood Groups in Man, 6th ed., Blackwell, Oxford (1975) pp. 178-260.
Tippett PA, "A speculative model for the Rh blood groups", Ann Hum Genet 50:241-47 (1986).
Cherif-Zahar B, Bloy C, Le Van Kim C, Blanchard D, Bailly P, Hermand P, Salmon C, et al., "Molecular cloning and protein structure of a human blood group Rh polypeptide", Proc Natl Acad Sci USA 87:6243-47 (1990).
Avent ND, Ridgwell K, Tanner MJA, and Anstee DJ, "cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression", Biochem J 271:821-25 (1990).
Le Van Kim C, Mouro I, Cherif-Zahar B, Raynal V, Cherrier C, Cartron J-P, and Colin Y, "Molecular cloning and primary structure of the human blood group RhD polypeptide", Proc Natl Acad Sci USA 89:10925-29 (1992).
Kajii E, Umenishi F, Iwamoto S, and Ikemoto S, "Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system", Hum Genet 91:157-62 (1993).
Arce MA, Thompson ES, Wagner S, Coyne KE, Ferdman BA, and Lublin DM, "Molecular cloning of RhD cDNA derived from a gene present in RhD-positive, but not RhD-negative individuals", Blood 82:651-55 (1993).
Colin Y, Cherif-Zahar B, Le Van Kim C, Raynal V, Van Huffel V, and Cartron J-P, "Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis", Blood 78:2747-52 (1991).
Mouro I, Colin Y, Cherif-Zahar B, Cartron J-P, and Le Van Kim C, "Molecular genetic basis of the human Rhesus blood group system", Nature Genet 5:62-65 (1993).
Walker RH et al., eds., Technical Manual, 11th ed., Chapter 11, pp. 229-258 American Association of Blood Banks, Arlington, Virginia (1993).
Zelinski T, "The use of DNA restriction fragment length polymorphisms in conjunction with blood group serology", Transfusion, 31:762-70 (1991). polymorphism", Nature Genetics 5:6-7 (1993).
Le Van Kim C, Cherif-Zahar B, Raynal V, Mouro I, Lopez M, Cartron J-P, and Colin Y, "Multiple Rh messenger RNA isoforms are produced by alternative splicing", Blood 80:1074-78 (1992).
Bennett PR, Le Van Kim C, Colin Y, Warwick RM, Cherif-Zahar B, Fisk NM, and Cartron J-P, "Prenatal determination of fetal RhD type of DNA amplification", New England J Med 329:607-10 (1993).
Fisk NM, Bennett P, Warwick RM, Letsky EA, Welch R, Vaugh JI, and Moore, G, "Clinical utility of fetal RhD typing in alloimmunized pregnancies by means of polymerase chain reaction on amniocytes or chorionic villi", Am J Obstet Gynecol 171:50-54 (1994).
Carritt B, Steers FJ, and Avent ND, "Prenatal determination of fetal RhD type" Lancet 344:205-06 (1994) (Letter).
Simsek S, Bleeker PM, and von dem Borne AE, "Prenatal determination of fetal RhD type", New England J Med 339:795-96 (1994).
Bennett P, Warwick R, and Cartron J-P, New England J Med 330(11):795-96 (1994) (Response to letter by Simsek et al.).
Huang C-H, Guizzo ML, McCreary J, Leigh EM, and Blumenfeld, OO, "Typing of MNSs blood group specific sequences in the human genome and characterization of a restriction fragment tightly linked to S-s-alleles", Blood 77:381-86 (1991).
Goossens, M, and Kan YY, "DNA analysis in the diagnosis of hemoglobin disorders", Methods Enzymol 76:805-17 (1981).
Huang C-H, Reid ME, and Blumenfeld OO, "Allelic exclusion of the Rh polypeptide genes revealed by analysis of transcripts expressed in the D-negative erythroid cells", (1995).
Huang C-H, Reid ME, and Chen Y, "Identification of a partial internal deletion in the RH locus causing the erythrocyte D--phenotype", Blood 86(2): (1995) (In press).
Huang C-H, and Blumenfeld OO, "Characterization of a genomic hybrid specifying the human erythrocyte antigen Dantu: Dantu gene is duplicated and linked to a delta glycophorin gene deletion", Proc Natl Acad Sci USA 85:9640-44 (1988).
Feinberg AP, and Vogelstein B, "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity" Anal Biochem 137:266-67 (1984).
Cherif-Zahar B, Le Van Kim C, Rouillac C, Raynal V, Cartron J-P, and Colin Y, "Organization of the gene (RHCE) encoding the human blood group RhCcEe antigens and characterization of the promoter region", Genomics 19:68-74 (1994).
Issitt PD, "The Rh blood group system, 1988: Eight new antigens in nine years and some observations on the biochemistry and genetics of the system", Transfusion Med Rev 3:1-12 (1989).
Socha WW, and Ruffie J, Blood Groups of Primates: Theory, Practice and Evolutionary Meaning, pp. 75-90, Alan Liss, New York (1983).
Salvignol I, Blancher A, Calvas P, Socha WW, Colin Y, Cartron J-P, and Ruffie J, "Relationship between chimpanzee Rh-like genes and the R-C-E-F blood group system", J Med Primatol 22:19-28 (1993).
Marsh WL, Chaganti RS, Gardner FH, Mayer K, Nowell PC, and German J, "Mapping human autosomes: evidence supporting assignment of rhesus to the short arm of chromosome No. 1", Science 183:966-68 (1974).
Cherif-Zahar B, Mattei MG, Le Van Kim C, Bailly P, Cartron J-P, and Colin Y, "Localization of the human Rh blood group gene structure to chromosome region 1p34.3-1p36.1 by in situ hybridization", Hum Genet 86:398-400 (1991).
MacGeoch C, Mitchell CJ, Carritt B, Avent ND, Ridgwell K, Tanner MJ, and Spurr NK, "Assignment of the chromosomal locus of the human 30-kDal Rh (rhesus) blood group-antigen-related protein (Rh30A) to chromosome region 1p36.13 ---p34" Cytogenet Cell Genet 59:261-63 (1992).
Kappes D, and Strominger JL, "Human class II major histocompatibility complex genes and proteins", Ann Rev Biochem 57:991-1028 (1988).
Huang C-H, and Blumenfeld OO, "MNSs blood groups and major glycophorins: Molecular basis for allelic variation", in Cartron J-P, and Rouger P, (eds.), Blood Cell Biochemistry 6:153-88, Plenum Press, New York (1995).
Hyland CA, Wolter LC, and Saul A, "Three unrelated Rh D gene polymorphisms identified among blood donors with Rhesus CCee (r'r') phenotypes", Blood 84:321-24 (1994).
Sisson Bradley L.
The New York Blood Center, Inc.
LandOfFree
Diagnostic method and kit for determining Rh blood group genotyp does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Diagnostic method and kit for determining Rh blood group genotyp, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Diagnostic method and kit for determining Rh blood group genotyp will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-2246632