Physical mapping studies on the human X chromosome in the region Xq27-Xqter. 1987

M Patterson, and C Schwartz, and M Bell, and S Sauer, and M Hofker, and B Trask, and G van den Engh, and K E Davies
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford, England.

We have characterized three terminal deletions of the long arm of the X chromosome. Southern analysis using Xq27/q28 probes suggests that two of the deletions have breakpoints near the fragile site at Xq27.3. Flow karyotype analysis provides an estimate of 12 X 10(6) bp for the size of the deleted region. We have not detected the deletion breakpoints by pulsed-field gel electrophoresis (PFGE) using the closet DNA probes, proximal to the fragile site. The physical distance between the breakpoints and the probes may therefore be several hundred kilobases. The use of the deletion patients has allowed a preliminary physical map of Xq27/28 to be constructed. Our data suggest that the closest probes to the fragile site on the proximal side are 4D-8 (DXS98), cX55.7 (DXS105), and cX33.2 (DXS152). PFGE studies provide evidence for the physical linkage of 4D-8, cX55.7, and cX33.2. We have also found evidence for the physical linkage of F8C, G6PD, and 767 (DXS115), distal to the fragile site.

UI MeSH Term Description Entries
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D002460 Cell Line Established cell cultures that have the potential to propagate indefinitely. Cell Lines,Line, Cell,Lines, Cell
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D005600 Fragile X Syndrome A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) FRAXA Syndrome,FRAXE Syndrome,Martin-Bell Syndrome,Fra(X) Syndrome,Fragile X Mental Retardation Syndrome,Fragile X-F Mental Retardation Syndrome,Mar (X) Syndrome,Marker X Syndrome,Mental Retardation, X-Linked, Associated With Fragile Site Fraxe,Mental Retardation, X-Linked, Associated With Marxq28,X-Linked Mental Retardation and Macroorchidism,FRAXA Syndromes,FRAXE Syndromes,Fragile X Syndromes,Marker X Syndromes,Martin Bell Syndrome,Syndrome, FRAXA,Syndrome, FRAXE,Syndrome, Fragile X,Syndrome, Marker X,Syndrome, Martin-Bell,Syndromes, FRAXA,Syndromes, FRAXE,Syndromes, Fragile X,Syndromes, Marker X,X Linked Mental Retardation and Macroorchidism
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014960 X Chromosome The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species. Chromosome, X,Chromosomes, X,X Chromosomes

Related Publications

M Patterson, and C Schwartz, and M Bell, and S Sauer, and M Hofker, and B Trask, and G van den Engh, and K E Davies
April 1991, Genomics,
M Patterson, and C Schwartz, and M Bell, and S Sauer, and M Hofker, and B Trask, and G van den Engh, and K E Davies
October 1991, Proceedings of the National Academy of Sciences of the United States of America,
M Patterson, and C Schwartz, and M Bell, and S Sauer, and M Hofker, and B Trask, and G van den Engh, and K E Davies
July 1993, Genomics,
M Patterson, and C Schwartz, and M Bell, and S Sauer, and M Hofker, and B Trask, and G van den Engh, and K E Davies
January 1994, Genomics,
M Patterson, and C Schwartz, and M Bell, and S Sauer, and M Hofker, and B Trask, and G van den Engh, and K E Davies
October 1991, Genomics,
M Patterson, and C Schwartz, and M Bell, and S Sauer, and M Hofker, and B Trask, and G van den Engh, and K E Davies
January 1995, Neuropsychobiology,
M Patterson, and C Schwartz, and M Bell, and S Sauer, and M Hofker, and B Trask, and G van den Engh, and K E Davies
April 2001, Animal genetics,
M Patterson, and C Schwartz, and M Bell, and S Sauer, and M Hofker, and B Trask, and G van den Engh, and K E Davies
August 1989, Genomics,
M Patterson, and C Schwartz, and M Bell, and S Sauer, and M Hofker, and B Trask, and G van den Engh, and K E Davies
March 1993, Genomics,
M Patterson, and C Schwartz, and M Bell, and S Sauer, and M Hofker, and B Trask, and G van den Engh, and K E Davies
January 2000, Human heredity,
Copied contents to your clipboard!