Abstract: Provided is a method of genome-wide testing of gene copy number at the genetically most important loci to determine whether the gene and/or its selected larger surrounding chromosome region is rearranged to result in an unbalanced abnormality in one or more subjects. The method includes selecting multiple gene loci of the DNAs to be examined in the test, conducting the test, and comparing the number of copies at each locus tested by quantification of total gene target number to determine the relative number of each polymorphic sequence detected to assure that each important tested sequence is distinguished from the other alleles at the same locus. A method of detecting the highest number of abnormal patients possible based upon the number of test sites available in a protocol is also provided. Depending upon the state of the life cycle, both of the methods can be done together or in sequence.

Abstract: A method of genome-wide testing of gene copy number at the genetically most important loci to determine whether the gene and/or its selected larger surrounding chromosome region is rearranged to result in an unbalanced abnormality in one or more subjects, said method including selecting multiple gene loci of said DNAs to be examined in said test, conducting said test, and comparing the number of copies at each locus tested. by quantification of total gene target number to determine the relative number of each polymorphic sequence detected to assure that each important tested sequence is distinguished from the other alleles at the same locus.

Abstract: The present invention provides compositions, methods and kits for the detection of genetic polymorphisms or mutations related to Charcot-Marie-Tooth Disease Type 1B. The polymorphism or mutations generally occur in the protein P0 gene in chromosome 1. Also provided are mutant forms of protein P0 and methods for screening compounds to identify compounds that enhance binding between mutant P0 proteins.

Abstract: The present invention provides compositions, methods and kits for the detection of genetic polymorphisms or mutations related to Charcot-Marie-Tooth Disease Type 1B. The polymorphism or mutations generally occur in the protein P0 gene in chromosome 1. Also provided are mutant forms of protein P0 and methods for screening compounds to identify compounds that enhance binding between mutant P0 proteins.

Abstract: This invention relates to novel methods of optimally analyzing commonly obtained prenatal cell samples by in situ hybridization. In addition, this method diagnoses gene deletion and gene multiplication using multicolor in situ hybridization. A method is also provided to use multicolor in situ hybridization to identify chromosomal haplotypes co-segregating with disease-related genetic alterations and with normal genes. This haplotype in situ protocol simplifies haplotype segregation analysis in pedigrees.

Abstract: This invention relates to novel methods of optimally analyzing commonly obtained prenatal cell samples by in situ hybridization. In addition, this method diagnoses gene deletion and gene multiplication using multicolor in situ hybridization. A method is also provided to use multicolor in situ hybridization to identify chromosomal haplotypes co-segregating with disease-related genetic alterations and with normal genes. This haplotype in situ protocol simplifies haplotype segregation analysis in pedigrees.