Abstract: The present invention provides a method for detection of at least one allele of a genetic locus and can be used to provide direct determination of the haplotype. The method comprises amplifying genomic DNA with a primer pair that spans an intron sequence and defines a DNA sequence in genetic linkage with an allele to be detected. The primer-defined DNA sequence contains a sufficient number of intron sequence nucleotides to characterize the allele. Genomic DNA is amplified to produce an amplified DNA sequence characteristic of the allele. The amplified DNA sequence is analyzed to detect the presence of a genetic variation in the amplified DNA sequence such as a change in the length of the sequence, gain or loss of a restriction site or substitution of a nucleotide. The variation is characteristic of the allele to be detected and can be used to detect remote alleles. Kits comprising one or more of the reagents used in the method are also described.

Abstract: The present invention provides a method for detection of at least one allele of a genetic locus and can be used to provide direct determination of the haplotype. The method comprises amplifying genomic DNA with a primer pair that spans an intron sequence and defines a DNA sequence in genetic linkage with an allele to be detected. The primer-defined DNA sequence contains a sufficient number of intron sequence nucleotides to characterize the allele. Genomic DNA is amplified to produce an amplified DNA sequence characteristic of the allele. The amplified DNA sequence is analyzed to detect the presence of a genetic variation in the amplified DNA sequence such as a change in the length of the sequence, gain or loss of a restriction site or substitution of a nucleotide. The variation is characteristic of the allele to be detected and can be used to detect remote alleles. Kits comprising one or more of the reagents used in the method are also described.

Abstract: The present invention provides a method for detection of at least one allele of a genetic locus and can be used to provide direct determination of the haplotype. The method comprises amplifying genomic DNA with a primer pair that spans an intron sequence and defines a DNA sequence in genetic linkage with an allele to be detected. The primer-defined DNA sequence contains a sufficient number of intron sequence nucleotides to characterize the allele. Genomic DNA is amplified to produce an amplified DNA sequence characteristic of the allele. The amplified DNA sequence is analyzed to detect the presence of a genetic variation in the amplified DNA sequence such as a change in the length of the sequence, gain or loss of a restriction site or substitution of a nucleotide. The variation is characteristic of the allele to be detected and can be used to detect remote alleles. Kits comprising one or more of the reagents used in the method are also described.

Abstract: The present invention provides a method for detection of at least one allele of a genetic locus and can be used to provide direct determination of the haplotype. The method comprises amplifying genomic DNA with a primer pair that spans an intron sequence and defines a DNA sequence in genetic linkage with an allele to be detected. The primer-defined DNA sequence contains a sufficient number of intron sequence nucleotides to characterize the allele. Genomic DNA is amplified to produce an amplified DNA sequence characteristic of the allele. The amplified DNA sequence is analyzed to detect the presence of a genetic variation in the amplified DNA sequence such as a change in the length of the sequence, gain or loss of a restriction site or substitution of a nucleotide. The variation is characteristic of the allele to be detected and can be used to detect remote alleles. Kits comprising one or more of the reagents used in the method are also described.

Abstract: The present invention provides a method for selectively recovering fetal cells from a maternal blood sample. The method is performed on a blood sample from a pregnant woman having different first and second cell surface antigens expressed by a first allele of a polymorphic genetic locus and a second allele of a polymorphic genetic locus. The method separates maternal and fetal cells based on differential reactivities of the cells to antibodies specific for polymorphic cell surface antigens, particularly the HLA antigens. In particular, the fetal and maternal cells are separated based on the non-reactivity of the fetal cells to an antibody specific for a cell surface antigen encoded by a non-transmitted maternal allele. The method can be performed using solid phase-affixed antibody and recovering non-bound cells or using fluorescent labeled antibody and recovering unlabeled cells by fluorescence-activated cell sorting.

Abstract: The present invention provides a method for selectively recovering fetal cells from a maternal blood sample. The method comprises the following steps. Cells of the sample are combined with a first and a second antibody labeled with different fluorochromes for a period of time sufficient for antibody binding to produce labeled cells. The antibodies are specific for two different antigens expressed by two material HLA alleles. In a preferred embodiment, the alleles are of an HLA locus for which the woman is heterozygous. Cells having two different fluorescent labels are separated from cells having either a single fluorescent label or unlabeled cells using fluorescence-activated cell sorting. The separated single-labeled and unlabeled cells are recovered. The separated fetal cells can be used in a variety of procedures including DNA amplification methods and karyotyping.

Abstract: The present invention provides a method for identifying band positions in an electrophoretic separation. A control is electrophoresed with the sample and serves as an internal control.