Abstract: Five novel DNA and protein sequences have been determined for the BRCA2 gene, as have been ten polymorphic sites and their rates of occurrence in the normal alleles of BRCA2. The sequences BRCA2(omi 1-5) and the ten polymorphic sites will provide greater accuracy and reliability for genetic testing. One skilled in the art will be better able to avoid misinterpretations of changes in the gene and/or protein sequence, determine the presence of a normal sequence, and of mutations of BRCA2. This invention is also related to a method of performing gene therapy with BRCA2(omi 1-5) coding sequences or fragments thereof. This invention is further related to protein therapy with BRCA2(omi 1-5) proteins or their functional equivalents.

Abstract: Five novel DNA and protein sequences have been determined for the BRCA2 gene, as have been ten polymorphic sites and their rates of occurrence in the normal alleles of BRCA2. The sequences BRCA2(omi 1-5) and the ten polymorphic sites will provide greater accuracy and reliability for genetic testing. One skilled in the art will be better able to avoid misinterpretations of changes in the gene and/or protein sequence, determine the presence of a normal sequence, and of mutations of BRCA2. This invention is also related to a method of performing gene therapy with BRCA2(omi 1-5) coding sequences or fragments thereof. This invention is further related to protein therapy with BRCA2(omi 1-5) proteins or their functional equivalents.

Abstract: Five novel DNA and protein sequences have been determined for the BRCA2 gene, as have been ten polymorphic sites and their rates of occurrence in the normal alleles of BRCA2. The sequences BRCA2(omi 1-5) and the ten polymorphic sites will provide greater accuracy and reliability for genetic testing. One skilled in the art will be better able to avoid misinterpretations of changes in the gene and/or protein sequence, determine the presence of a normal sequence, and of mutations of BRCA2. This invention is also related to a method of performing gene therapy with BRCA2(omi 1-5) coding sequences or fragments thereof. This invention is further related to protein therapy with BRCA2(omi 1-5) proteins or their functional equivalents.

Abstract: Five novel DNA and protein sequences have been determined for the BRCA2 gene, as have been ten polymorphic sites and their rates of occurrence in the normal alleles of BRCA2. The sequences BRCA2(omi 1-5) and the ten polymorphic sites will provide greater accuracy and reliability for genetic testing. One skilled in the art will be better able to avoid misinterpretations of changes in the gene and/or protein sequence, determine the presence of a normal sequence, and of mutations of BRCA2. This invention is also related to a method of performing gene therapy with BRCA2(omi 1-5) coding sequences or fragments thereof. This invention is further related to protein therapy with BRCA2(omi 1-5) proteins or their functional equivalents.

Abstract: Five novel DNA and protein sequences have been determined for the BRCA2 gene, as have been ten polymorphic sites and their rates of occurrence in the normal alleles of BRCA2. The sequences BRCA2(omi 1-5) and the ten polymorphic sites will provide greater accuracy and reliability for genetic testing. One skilled in the art will be better able to avoid misinterpretations of changes in the gene and/or protein sequence, determine the presence of a normal sequence, and of mutations of BRCA2. This invention is also related to a method of performing gene therapy with BRCA2(omi 1-5) coding sequences or fragments thereof. This invention is further related to protein therapy with BRCA2(omi 1-5) proteins or their functional equivalents.

Abstract: Methods for identifying functional allele profiles of a given gene are disclosed. Functional allele profiles comprise the commonly occurring alleles in a population, and the relative frequencies at which such alleles of a given gene occur. Functional allele profiles are useful in treatment and diagnosis of diseases, for genetic and pharmacogenetic applications and for evaluating the degree to which the gene(s) are under selective pressure.

Abstract: isolated coding sequences and to the protein sequences they code for. This invention is directed to three coding sequence of the BRCA1 gene. The three coding sequences, BRCA1(omi1), BRCA1(omi2), and BRCA1(omi3) and their frequencies of occurrence are provided together with the protein sequences they code for. Another aspect of this invention is a method of determining the consensus sequence for any gene. Another aspect of the invention is a method of identifying an individual having an increased genetic susceptibility to breast or ovarian cancer because they have inherited a causative mutation in their BRCA1 gene. This invention is also related to a method of performing gene therapy with any of the isolated BRCA1 coding sequences.

Abstract: Methods for identifying functional allele profiles of a given gene are disclosed. Functional allele profiles comprise the commonly occurring alleles in a population, and the relative frequencies at which such alleles of a given gene occur. Functional allele profiles are useful in treatment and diagnosis of diseases, for genetic and pharmacogenetic applications and for evaluating the degree to which the gene(s) are under selective pressure.

Abstract: This invention is directed to the isolated coding sequences and to the protein sequences they code for. This invention is directed to three coding sequence of the BRCA1 gene. The three coding sequences, BRCA1(omi1), BRCA1(omi2), and BRCA1(omi3) and their frequencies of occurrence are provided together with the protein sequences they code for. Another aspect of this invention is a method of determining the consensus sequence for any gene. Another aspect of the invention is a method of identifying an individual having an increased genetic susceptibility to breast or ovarian cancer because they have inherited a causative mutation in their BRCA1 gene. This invention is also related to a method of performing gene therapy with any of the isolated BRCA1 coding sequences. This invention is further related to protein therapy with BRCA1(omi) proteins or their functional equivalent.

Abstract: Isolated coding sequences and to the protein sequences they code for. This invention is directed to three coding sequence of the BRCA1 gene. The three coding sequences, BRCA1(omi1), BRCA1(omi2), and BRCA1(omi3) and their frequencies of occurrence are provided together with the protein sequences they code for. Another aspect of this invention is a method of determining the consensus sequence for any gene. Another aspect of the invention is a method of identifying an individual having an increased genetic susceptibility to breast or ovarian cancer because they have inherited a causative mutation in their BRCA1 gene. This invention is also related to a method of performing gene therapy with any of the isolated BRCA1 coding sequences.

Abstract: This invention is directed to the isolated coding sequences and to the protein sequences they code for. This invention is directed to three coding sequence of the BRCA1 gene. The three coding sequences, BRCA1.sup.(omi1), BRCA1.sup.(omi2), and BRCA1.sup.(omi3) and their frequencies of occurrence are provided together with the protein sequences they code for. Another aspect of this invention is a method of determining the consensus sequence for any gene. Another aspect of the invention is a method of identifying an individual having an increased genetic susceptibility to breast or ovarian cancer because they have inherited a causative mutation in their BRCA1 gene. This invention is also related to a method of performing gene therapy with any of the isolated BRCA1 coding sequences. This invention is further related to protein therapy with BRCA.sup.(omi) proteins or their functional equivalent.

Abstract: A step-wise integrated process for identifying sequence variations in polynucleotide sequences is disclosed. The identification process is composed of three stages, including allele specific hybridization assays of known sequence variations (Stage I), sequence variation locating assays (Stage II), and direct sequencing (Stage III). The methods can be used for efficient and accurate detection of mutations in any test gene sample.

Abstract: This invention is directed to three coding sequences of the BRCA1 gene. The three coding sequences, BRCA1.sup.(omi1), BRCA1.sup.(omi2) and BRCA1.sup.(omi3) as well as their frequencies of occurrence are provided together with the protein sequences they code for. Another aspect of this invention is a method of determining the consensus sequence for any gene. Another aspect of the invention is a method of identifying an individual having an increased genetic susceptibility to breast or ovarian cancer because they have inherited a causative mutation in their BRCA1 gene. This invention is also related to a method of performing gene therapy with any of the isolated BRCA1 coding sequences.

Abstract: A consensus DNA sequence has been determined for the BRCA1 gene. As has been seven polymorphic sites and their rates of occurrence in normal BRCA1 genes. The consensus gene BRCA1.sup.(omi) and the seven polymorphic sites will provide greater accuracy and reliability for genetic testing. One skilled in the art will be better able to avoid misinterpretations of changes in the gene, determine the presence of a normal gene, and of mutations, and to classify tumors.