Report of the committee on linkage and gene order

Keats, B.J.B.; Sherman, S.L.; Ott, J.; Simpson, P.

doi:10.1159/000133723

Cited by 9 publications

(11 citation statements)

References 10 publications

(12 reference statements)

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“…In previous studies (Schoenmakers et al, 1994a), we mapped the chromosome 12 breakpoints in a number of pleomorphic adenomas of the salivary glands relative to various DNA markers and established that these were all located proximal to locus D12S8 and distal to the CHOP gene. This region is somewhat smaller than the 7 cM region encompassed by linkage loci D12S8 and D12S19 (Keats et al, 1989). Using YAC cloning, a long range physical/STS map has been constructed covering most of that 7 cM region, as recently reported (Kucherlapati et al, 1994).…”

Section: Fish Mapping Of I2q Breakpoints In Cell Lines Of Pleomorphicmentioning

confidence: 98%

“…On the basis of fluorescence in situ hybridization (FISH) data, we previously reported that the chromosome 12 breakpoints in a number of cell lines derived from primary pleomorphic salivary gland adenomas (Kazmierczak et al , 1990;Schoenmakers et al, 1994a) are located on the long arm of chromosome 12 in the interval between loci D12S19 and D12S8 (Schoenmakers et al, 1994a). This DNA interval has been estimated to be about 7 cM (Keats et al, 1989;Craig et al, 1993). T h e interval con-taining the chromosome 12 breakpoints of these tumor cells was narrowed further by showing that all breakpoints maipped distally to the CHOP gene, which is directly affected by the characteristic t( 12; 16) translocatioin in myxoid liposarcomas (Aman et al, 1992;Crozat et al, 1993;Rabbitts et al, 1993) and is located between D12S19and D12S8.…”

Section: Introductionmentioning

confidence: 99%

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Molecular characterization of mar, a multiple aberration region on human chromosome segment 12q13‐q15 implicated in various solid tumors

Ven

Schoenmakers

Wanschura

et al. 1995

Genes Chromosomes & Cancer

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Chromosome arm 12q breakpoints in seven cell lines derived from primary pleomorphic salivary gland adenomas were mapped by FISH analysis relative to nine DNA probes. These probes all reside in a 2.8 Mb genomic DNA region of chromosome segment 12q13-q15 and correspond to previously published sequence-tagged sites (STS). Their relative positions were established on the basis of YAC cloning and long range physical and STS content mapping. The 12q breakpoints of five of the cell lines were found to be mapping within three different subregions of the 445 kb DNA interval that was recently defined as the uterine leiomyoma cluster region of chromosome 12 breakpoints (ULCR12) between STS RM33 and RM98. All seven breakpoints appeared to map within the 1.7 Mb DNA region between STS RM36 and RM103. Furthermore, the chromosome 12 breakpoints of three primary pleomorphic salivary gland adenomas were also found to be mapping between RM36 and RM103. Finally, FISH analysis of two lipoma cell lines with 12q13-q15 aberrations pinpointed the breakpoints of these to relatively small and adjacent DNA segments which, as well as those of two primary lipomas, appeared to be located also between RM36 and RM103. We conclude from the observed clustering of the 12q breakpoints of the three distinct solid tumor types that the 1.7 Mb DNA region of the long arm of chromosome 12 between RM36 and RM103 is a multiple aberration region which we designate MAR.

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Section: Fish Mapping Of I2q Breakpoints In Cell Lines Of Pleomorphicmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Molecular characterization of mar, a multiple aberration region on human chromosome segment 12q13‐q15 implicated in various solid tumors

Ven

Schoenmakers

Wanschura

et al. 1995

Genes Chromosomes & Cancer

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“…By in situ hybridization, the human CD8A gene is near the kappa region of chromosome 2 (25); the proximity of the two loci is confirmed by the observation that both were translocated to human chromosome 8 in a Burkitt cell line (25). By linkage analysis, CD8A is 5.5 centimorgans centromeric to C, (1 cM represents 1% recombination) (26). The actual physical distance between C, and CD8A is not known; by pulse-field electrophoretic methods, the CD8A gene hybridizes to a restriction fragment of a size different from that of any of the fragments to which kappa-region probes hybridize (27).…”

Section: Methodsmentioning

confidence: 99%

Variable‐Constant Segment Genotype of Immunoglobulin Kappa is Associated with Increased Risk for Rheumatoid Arthritis

Moxley

1992

Arthritis & Rheumatism

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Objective. To further investigate the association of rheumatoid arthritis (RA) with a particular genotype identified by a restriction site polymorphism near the constant segment of immunoglobulin kappa (C,).Methods. The frequencies of genomic DNA polymorphisms detected within or near C, (the most C, -proximal variable segment [V,] B3 and a T lymphocyte marker [CDSA]) were determined by Southern blotting and hybridization. The frequencies of coding-region polymorphisms of C, (Km allotypes) were determined by amplification by polymerase chain reaction followed by restriction enzyme digestion.Results. Although the frequencies of B3, Km, and CD8A genotypes were not Merent between RA and normal control populations, more individuals were homozygous for both C, and B3 in the RA group (relative risk 2.2, P < 0.01), especially in the DR4-negative RA subgroup (relative risk 3.9, P < 0.001).

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“…shown in the correct orientation. The ESD locus is the Esterase D locus, RB1 locus is the retinoblastoma susceptibility gene locus, WND is the uncharacterized locus for the Wilson disease gene (as it has not yet been cloned and identified, no RFLPs are known), and D13S26 is an anonymous segment of DNA which maps to the other side of the WND locus (Keats et al, 1989) are shown vertically below each family member from whom DNA was obtained. The paternal chromosome is the leftmost of the two chromosomes shown for each individual.…”

Section: Families and Individualsmentioning

confidence: 99%

DNA‐based presymptomatic diagnosis of Wilson disease

Gaffney

Walker

O'Donnell

et al. 1991

J of Inher Metab Disea

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Investigation using DNA markers in a family with Wilson disease revealed that an apparently normal child of 10 years of age with non-diagnostic copper biochemistry had the disease. The procedure used linked restriction fragment length polymorphic markers. Demonstration of increased liver copper concentration from a liver biopsy confirmed the diagnosis and the child was started on chelation therapy. Two other asymptomatic siblings were shown, using the same techniques, not to have the disease. Similar analysis was carried out on another family with just one index case.

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Report of the committee on linkage and gene order

Cited by 9 publications

References 10 publications

Molecular characterization of mar, a multiple aberration region on human chromosome segment 12q13‐q15 implicated in various solid tumors

Molecular characterization of mar, a multiple aberration region on human chromosome segment 12q13‐q15 implicated in various solid tumors

Variable‐Constant Segment Genotype of Immunoglobulin Kappa is Associated with Increased Risk for Rheumatoid Arthritis

DNA‐based presymptomatic diagnosis of Wilson disease

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