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15 results on '"Rothschild, Cynthia B."'

3. A microsatellite polymorphism associated with the PLC1 (phospholipase C) locus: Identification, mapping, and linkage to the MODY locus on chromosome 20

Author

Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA, Department of Biochemistry, Bowman Gray School of Medicine, Medical Center Boulevard, Winston-Salem, North Carolina 27157, USA, Rothschild, Cynthia B., Akots, Gita, Fajans, Stefan S., Bowden, Donald W., Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA, Department of Biochemistry, Bowman Gray School of Medicine, Medical Center Boulevard, Winston-Salem, North Carolina 27157, USA, Rothschild, Cynthia B., Akots, Gita, Fajans, Stefan S., and Bowden, Donald W.

Abstract

A highly polymorphic (dC-dA)n[middle dot](dG-dT)n dinucleotide repeat at the PLC1 locus on human chromosome 20 has been identified. Primers flanking the dinucleotide repeat were used for PCR amplification of the repeat region in 37 informative kindreds from the Centre d'Etude du Polymorphisme Humain. Two-point linkage analysis indicates that PLC1 is closely linked to several chromosome 20 markers, including D20S16 (zmax = 41.25; [theta] = 0.07), D20S17 (zmax = 42.81; [theta] = 0.09), and ADA (zmax = 57.24; [theta] = 0.05). Multipoint linkage analysis places the PLC1 locus between D20S18 and D20S17, 11.2 and 6.6 cM, respectively, from these loci (sex-averaged distances). In addition, the PLC1 gene shows linkage to the maturity-onset diabetes of the young (MODY) locus on chromosome 20 with a lod score of 4.57 at [theta] = 0.089.

Published
2006

4. A genetic map of chromosome 20q12-q13.1: Multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus

Author

Rothschild, Cynthia B., Akots, Gita, Hayworth, Rosa, Pettenati, Mark J., Rao, P. Nagesh, Wood, Patricia, Stolz, Frank-Michael, Hansmann, Ingo, Serino, Kristina, Keith, Tim P., Fajans, Stefan S., and Bowden, Donald W.

Subjects
Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Base Sequence, Genetic Linkage, Molecular Sequence Data, Chromosomes, Human, Pair 20, Chromosome Mapping, Original Articles, DNA, Satellite, Diabetes Mellitus, Type 2, Humans, Female, In Situ Hybridization, Fluorescence, Polymorphism, Restriction Fragment Length
Abstract

Multiple highly polymorphic markers have been used to construct a genetic map of the q12-q13.1 region of chromosome 20 and to map the location of the maturity-onset diabetes of the young (MODY) locus. The genetic map encompasses 23 cM and includes 11 loci with PIC values >.50, seven of which have PICs >.70. New dinucleotide repeat polymorphisms associated with the D20S17, PPGB, and ADA loci have been identified and mapped. The dinucleotide repeat polymorphisms have increased the PIC of the ADA locus to .89 and, with an additional RFLP at the D20S17 locus, the PIC of the D20S17 locus to .88. The order of the D20S17 and ADA loci determined genetically (cen–ADA–D20S17–qter) was confirmed by multicolor fluorescence in situ hybridization. The previously unmapped PPGB marker is closely linked to D20S17, with a two-point lod score of 50.53 at [unk] = .005. These markers and dinucleotide repeat markers associated with the D20S43, D20S46, D20S55, D20S75, and PLC1 loci and RFLPs at the D20S16, D20S17, D20S22, and D20S33 have been used to map the MODY locus on chromosome 20 to a 13-cM (sex averaged) interval encompassing ADA, D20S17, PPGB, D20S16, and D20S75 on the long arm of chromosome 20 and to create a genetic framework for additional genetic and physical mapping studies of the region. With these multiple highly polymorphic loci, any MODY family of appropriate size can be tested for the chromosome 20 linkage.

Published
1993

5. Facing section 101 challenges in the biological and chemical arts

Author

Grab, Leslie T. and Rothschild, Cynthia B.

Subjects
Patentability -- Laws, regulations and rules, Biotechnology industry -- Intellectual property, Government regulation, Law, Patent Code of 1952 (35 U.S.C. 101)
Abstract

June 16, 2015 The patent landscape with respect to patentable subject matter for the biological and chemical arts is in a state of flux. After the Supreme Court's decisions in [...]

Published
2015

9. Fructose-1,6-Bisphosphatase: Genetic and Physical Mapping to Human Chromosome 9q22.3 and Evaluation in Non-Insulin-Dependent Diabetes Mellitus

Author

Rothschild, Cynthia B., primary, Freedman, Barry I., additional, Hodge, Rosa, additional, Rao, P.Nagesh, additional, Pettenati, Mark J., additional, Anderson, Richard A., additional, Akots, Gita, additional, Qadri, Asif, additional, Roh, Bong, additional, Fajans, S.S., additional, Reis, Andre, additional, Morris, Deborah J., additional, Usala, Anton, additional, Hayward, Caroline, additional, Brock, David, additional, Colle, Eleanor, additional, Spray, Beverly J., additional, Rich, Stephen S., additional, and Bowden, Donald W., additional

Published
1995
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10. Development of 124 Sequence-Tagged Sites and Cytogenetic Localization of 217 Cosmids for Human Chromosome 10

Author

Zheng, Chuang-jie, primary, Ma, Nancy Shui-Fong, additional, Dorman, Thomas E., additional, Wang, Mei-Tai, additional, Braunschweiger, Karen, additional, Soares, Lorena, additional, Schuster, Melissa K., additional, Rothschild, Cynthia B., additional, Bowden, Donald W., additional, Torrey, Dana, additional, Keith, Tim P., additional, Moir, Donald T., additional, and Mao, Jen-i, additional

Published
1994
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