Subject(s)
Antineoplastic Agents/pharmacology , Neurofibromin 1/genetics , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics , Quinolones/pharmacology , Child , Female , Humans , In Vitro Techniques , Polymorphism, Single Nucleotide/genetics , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/pathology , Sequence DeletionSubject(s)
Homeodomain Proteins/genetics , Leukemia, Monocytic, Acute/genetics , Myeloid-Lymphoid Leukemia Protein/genetics , Oncogene Proteins, Fusion/genetics , Proto-Oncogene Proteins c-abl/metabolism , Adaptor Proteins, Signal Transducing , Chromosomes, Human, Pair 11 , Chromosomes, Human, Pair 4 , Female , Histone-Lysine N-Methyltransferase , Homeodomain Proteins/metabolism , Humans , Infant , Oncogene Proteins, Fusion/metabolism , RNA-Binding ProteinsABSTRACT
In a family in which X-linked megalocornea is segregating, the disease locus was found to be closely linked to DXS87 (zeta max = 3.91, theta max = 0.00) and DXS94 (zeta max = 3.34, theta max = 0.00) in Xq21.3-q22.
Subject(s)
Corneal Diseases/congenital , Genetic Linkage , X Chromosome , Corneal Diseases/genetics , Female , Genetic Markers , Humans , Male , Pedigree , Polymorphism, Restriction Fragment LengthABSTRACT
Linkage analysis of five marker loci in and around the Duchenne muscular dystrophy (DMD) locus, DXS84, DXS206, DXS164, DXS270, and DXS28, was conducted with 499 families. Overall, the best multipoint distances were found to be DXS84-3.7 +/- 0.6 cM-DXS206-1.0 +/- 0.4 cM-DXS164-1.9 +/- 0.6 cM-DXS270-12.0 +/- 1.1 cM-DXS28. A comparison of this linkage map with the established physical map suggests the presence of hot spots for recombination in the DMD locus.
Subject(s)
Muscular Dystrophies/genetics , X Chromosome , Chromosome Deletion , Chromosome Mapping , Female , Genetic Linkage , Genetic Markers , Humans , Male , Mutation , Polymorphism, Restriction Fragment Length , Recombination, GeneticABSTRACT
Restriction fragment length polymorphism studies and gene dosage analysis using the intragenic probes pERT87 were used to detect deletions in potential carriers in a family with Duchenne muscular dystrophy in which the only affected male was deceased. Two females were found to have inherited the paternal pERT87 alleles but not the maternal alleles, suggesting that they have inherited the pERT87 deletion from their mothers. The hybridization signals of pERT87 from these two females upon gene dosage analysis also suggested that they had a single copy of pERT87. The chorionic villi of a male fetus from one of these two females was found to be deleted for pERT87, suggesting that it was affected. This result confirmed the carrier status of the mother.
Subject(s)
DNA/genetics , Genetic Carrier Screening/methods , Genetic Linkage , Muscular Dystrophies/genetics , Prenatal Diagnosis/methods , X Chromosome , Alleles , Chorionic Villi Sampling , Chromosome Deletion , Creatine Kinase/blood , Female , Humans , Infant, Newborn , Male , Pedigree , Polymorphism, Restriction Fragment Length , PregnancyABSTRACT
The linkage relationships between the X-linked retinitis pigmentosa (XLRP) locus and seven Xp loci: DXS14, DXS7, OTC, DXS141, DXS148, DXS84 and DXS206 were analysed in one large family in which the heterozygotes exhibited the tapetal reflex. Evidence drawn from two-point and multipoint linkage analysis and a number of triply informative crossovers suggests that the XLRP locus in this family is between DXS7 and DXS84. The putative order of loci on the short arm of the X chromosome is: centromere - DXS14 - DXS7 - OTC - XLRP/DXS141 - DXS148 - DXS84 - DXS206 - telemere.
Subject(s)
Chromosome Mapping , Retinitis Pigmentosa/genetics , Sex Chromosome Aberrations/genetics , X Chromosome , Child , DNA Probes , Genetic Linkage , Heterozygote , Humans , Male , Pedigree , Polymorphism, Restriction Fragment LengthABSTRACT
Results of the use of recombinant DNA techniques for the diagnosis of both forms of X-linked muscular dystrophy, Duchenne (DMD) and Becker (BMD), over an 18 month period, are reviewed. In all, 97 families with DMD were investigated and four with BMD. In 90 families the propositi were examined for deletions, in 21 families the maximum number of meioses was examined (in order to generate recombination fraction data) and in 45 families the study was undertaken to provide carrier and prenatal diagnosis.
Subject(s)
DNA Probes , Genetic Carrier Screening , Genetic Linkage , Muscular Dystrophies/genetics , Chromosome Deletion , Chromosome Mapping , Genetic Counseling , Humans , New South WalesABSTRACT
A number of variants of X-linked retinitis pigmentosa (XLRP) have been described. In one variant, listed in the McKusick (McK) catalogue (McKusick 1983) as entry no. 30320, the heterozygotes exhibit a golden metallic or tapetal reflex. Three large pedigrees segregating for XLRP with the characteristic tapetal reflex in the heterozygotes were examined, and the linkage between the XLRP locus and Xp loci, L1.28, OTC, 754, XJ-1.1, pERT87 and C7 was measured. The strongest linkage was found to be between the XLRP locus and OTC. In addition, recombinational evidence drawn from the three pedigrees suggests that the XLRP locus is distal to L1.28 and proximal to 754. This putative location of the XLRP gene between L1.28 and 754 taken together with the tight linkage to OTC, a locus already located between L1.28 and 754, leads us to propose a gene order of centromere-L1.28-OTC/XLRP-754-telomere.
