Converting diploidy to haploidy for genetic diagnosis

Details Converting diploidy to haploidy for genetic diagnosis Converting diploidy to haploidy for genetic diagnosis

2006-05-16

2006-05-16

Sullivan, Daniel M. (Department: 1636)

Chemistry: molecular biology and microbiology

Animal cell, per se ; composition thereof; process of...

Fused or hybrid cell, per se

C435S006120, C435S449000, C435S455000

Reexamination Certificate

active

07045352

ABSTRACT:
Detection of mutations associated with hereditary diseases is complicated by the diploid nature of mammalian cells. Mutations present in one allele are often masked by the wild-type sequence of the other allele. Individual alleles can be isolated from every chromosome within somatic cell hybrids generated from a single fusion. Nucleic acids from the hybrids can be analyzed for mutations in an unambiguous manner. This approach was used to detect two cancer-causing mutations that had previously defied genetic diagnosis. One of the families studied, Warthin Family G, was the first kindred with a hereditary colon cancer syndrome described in the biomedical literature.

REFERENCES:
patent: 5288625 (1994-02-01), Hadlaczky
patent: 5612201 (1997-03-01), De Plaen et al.
patent: 5721118 (1998-02-01), Scheffler
patent: 6063375 (2000-05-01), Gattoni-Celli et al.
patent: 6077697 (2000-06-01), Hadzlackzky et al.
patent: WO 98/08964 (1998-03-01), None
Graves (1988) J. Genetics 67:9-22.
Santachiara et al., “Genetic Analysis with Man-Mouse Somatic Cell Hybrids”,Nature, vol. 227, pp. 248-251 (1970).
Lugo et al., “Isolation of Microcell Hybrid Clones Containing Retroviral Vector Insertions into Specific Human Chromosomes”,Molecular and Cellular Biology, pp. 2814-2820 (1987).
Saxon et al., “Selective Transfer of Individual Human Chromosomes to Recipient Cells”,Molecular and Cellular Biology, pp. 140-146, (1985).
Campbell et al., “Trans-Acting Factors in Chromosomal Instability”,Cancer Genetics Cytogenetics, vol. 48, pp. 89-100 (1990).
Cuthbert et al., “Construction and characterization of a highly stable human:rodent monochromosomal hybridpanel for genetic complementation and genome mapping studies”,Cytogenetics Cell Genetics, vol. 71, pp. 68-76 (1995).
Douglas et al., “Experimentally-derived haplotypes substantially increase the efficiency of linkage disequilibrium studies”,Nature Genetics, vol. 28, pp. 361-364 (2001).
Langer et al., “Facilitating haplotype analysis by fully automated analysis of all chromosomes in human-mouse hybrid cell lines”,Cytogenetics Cell Genetics, vol. 93, pp. 11-15 (2001).
Li et al., “Aneuploidy correlated 100% with chemical transformation of Chinese hamster cells”,Proc. Natl. Acad. Sci., vol. 94, pp. 14506-14511 (1997).
Zuna et al., “Heterogeneity of Karyotype and Growth Potential in Simian Virus 40-Transformed Chinese Hamster Cell Clones”,J. Natl. Cancer Inst., vol. 58, NO. 5, pp. 1463-1479 (1977).
Grinchuk et al., “Pleiotropic Alterations of Caryotype Structure of Fibroblasts of CHL V-79 RJK Chinese Hamster, Related to Their Acquiring Resistance to Etoposide—Inducer of Apoptosis”,Tsitologia(Cytology), vol. 41, No. 2, pp. 1-9 (1999).
Thacker, J., “The Chromosomes of a V79 Chinese Hamster Line and a Mutant Subline Lacking HPRT Activity”,Cytogenetics Cell Genetics, vol. 29, pp. 16-25 (1981).
Allderdice, et al., “Chromosome Analysis of two Related Heteroploid Mouse Cell Lines by QuinacrineFluorescence”,J. Cell Sci., vol. 12, pp. 263-274 (1973).
Russell, et al., Karyotypic Analyses of Parental and Hybrid Intraspecific Mouse Cells, A9/B82, by Giemsa- and Centromeric-Banding,J. Cell Sci., vol. 25, pp. 59-71 (1977).
Weiss et al., “Human-Mouse Hybrid Cell Lines Containing Partial Complements of Human Chromosomes andFunctioning Human Genes”, Genetics, vol. 58, pp. 1104-1111 (1967).
Kao et al., “Genetics of Somatic Mammalian Cells: Demonstration of a Human Esterase Activator Gene Linked to the AdeB Gene”,Proc. Nat. Acad. Sci., vol. 69, No. 11, pp. 3273-3277, (1972).
Rasnick et al., “How Aneuploidy Affects Metabolic Control and Causes Cancer”,Biochem. J., vol. 340, pp. 621-630 (1999).
Li et al., “Aneuploidy vs. Gene Mutation Hypothesis of Cancer: Recent Study Claims Mutation but is Found to Support Aneuploidy”,PNAS, vol. 97, No. 7, pp. 3236-3241 (2000).
Duesberg et al., “Genetic Instability of Cancer Cells is Proportional to their Degree of Aneuploidy”,Prac. Natl. Acad. Sci., vol. 95, pp. 13692-13697 (1998).
Kayes et al., “Deletion Spanning the Neurofibromatosis I Gene: Identification and Phenotype of Five Patients”,Am. J. Hum. Genet., vol. 54, pp. 424-436.
Pietenpol et al, Mammalian Cells Resistant to Tumor Suppressor Genes,PNAS, vol. 93, pp. 830-8394.
Tindall et al., “Complementation of Mismatch Repair Gene Defects by Chromosome Transfer”,Mutation Res., vol. 402, pp. 15-22.
Nyormoi et al., “Proliferating Hybrid Cells Froed Between Rat Spematids and an Established Line of Mouse Fibroblasts”,J. Cell Sci., vol. 13, pp. 863-878.
Tolsma et al., “Transformation of NIH/3T3 to Anchorage Independence by H-Ras is Accompanied by Loss of Suppressor Activity”,Exp. Cell Res., vol. 205, pp. 232-239.
Leach, F.S. et al.; “Mutations of the Muts Homolog in Heredity Nonpolyposis Colorectal Cancer”; Cell Press, vol. 75, No. 6, Dec. 1993, pp. 1215-1225.
Hosoi, E. et al.; “A Human-Mouse Hybird Cell Line Expressing Both Human Leukocyte and Histocompatibility-2 Antigens”, Japanese Journal of Physiology, vol. 40, No. 1, 1990, pp. 297-304.
Yan, Hai et al.; “Conversion of Diploidy to Hapliody”, Nature (London), vol. 403, No. 6771, Feb. 2000, pp. 723-724.
Pazzaglia et al. “Somatic Cell Hybrids for High-Density Mapping of Chromosome 2 Breakpoints in Radiation-Induced Myeloid Leukemia Cell Lines from Inbred Mice” Molecular Carcinogenesis 27:219-228 (2000).
McDaniel et al. “Confirmation of Homozygosity for a Single Nucleotide Substitution Mutation in a Cockayne Syndrome Patient Using Monoallelic Mutation Analysis in Somatic Cell Hybrids” Human Mutation 10:317-321 (1997).
PCT International Search Report, PCT/US00/27508.

Affiliated with

Also associated with

Rating

Converting diploidy to haploidy for genetic diagnosis does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Converting diploidy to haploidy for genetic diagnosis, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Converting diploidy to haploidy for genetic diagnosis will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-3533976