An anonymous single copy genomic clone at 13q12–13q13 identifies three RFLPs [HGM8] assignment no. D13S11]

Scheffer, Hans; Penninga, Dirk; Goor, Nicole; Pearson, P. L.; Buys, Charles H.C.M.

doi:10.1093/nar/14.7.3148

Cited by 6 publications

(3 citation statements)

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“…(Bowcock ct al., 1989) P13-ql3 D13S44 DNA Segment, single copy probe pG 104 S P (Scheffer ct al., 1987b) ql2 or 13q 14.1 D13S21 + DNA Segment, single copy probes pG24E2. 4, pG24E6.8,pG24E2.4 CH,D,L,S C (Buys et al, 1985) (Scheffer et al, 1986) (Scheffer el al., 1987a) (Blanquet et al, 1987) (Bowcock cl al., 1988) (Cowell and Mitchell, 1989) (Higgins ct al., 1990) …”

Section: Rbi Gene Functionmentioning

confidence: 99%

Report of the committee on the genetic constitution of chromosome 13

Bowcock¹,

Taggart²,

Ward³

1990

Cytogenet Genome Res

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Section: Rbi Gene Functionmentioning

confidence: 99%

Report of the committee on the genetic constitution of chromosome 13

Bowcock¹,

Taggart²,

Ward³

1990

Cytogenet Genome Res

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“…The first letter of the name is "D," for DNA, followed by its chromosomal assignment, a "complexity character,'' and a number to give the segment a unique designation. An example is provided by Scheffer et al (1986), who report three RFLPs on an anonymous gene segment that maps to human chromosome 13, 13q12-ql3. Using a DNA probe called pG2E3.1 and three restriction endonucleases, three diallelic RFLP loci are defined.…”

Section: Nomenclature Of D N a Polymorphismsmentioning

confidence: 99%

“…Each set of three alleles are linked on the same chromosome and segregate together in family studies. (Scheffer et al, 1986(Scheffer et al, ,1987. This gene segment illustrates a number of lessons about RFLPs.…”

Section: Nomenclature Of D N a Polymorphismsmentioning

confidence: 99%

Restriction fragment length polymorphism (RFLP)

Williams

1989

Am. J. Phys. Anthropol.

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A restriction fragment length polymorphism (RFLP) is defined by an enzyme, a restriction endonuclease, that cuts the doublestranded DNA at a particular sequence of bases, a probe, a labeled, complementary segment of DNA that will anneal to a portion of the digested sample, and a set of variable fragment length bands that appear on a Southern blot. An elementary discussion of restriction enzymes, their nomenclature, recognition sequences, and activities is presented. This is followed by a basic description of the RFLP and its components, electrophoresis, the Southern blot, and hybridization. Simple DNA polymorphisms are illustrated in light of the nomenclature for RFLPs in human gene segments of known function and those that are anonymous. It is shown that the majority of RFLP loci have two alleles, while a subset, the minisatellite and some variable number of tandem repeat (VNTR) loci, exhibit hypervariability. Applications of RFLP technology to parentage testing, human gene mapping, prenatal diagnosis, and evolutionary studies complete the essay.Restriction fragment length polymorphisms (RFLP) carry their definition in their name. A restriction fragment is a piece of DNA that is excised from the larger molecule by a protein called a restriction enzyme or restriction endonuclease. The polymorphisms are determined by the number and the varying lengths of these DNA fragments. It will be shown that DNA polymorphisms are a natural extension of Mendelian principles at the most elemental level, the genetic material itself, and that as such they form a subset of the entire corpus of genetic variation, which includes loci that have been defined at lower levels of resolution, such as human red blood cell polymorphisms ABO and Rhesus. The advantage that RFLPs have over traditional polymorphic loci is that they represent a relatively uniform technology that can be applied to any chromosome, whether it be in a bacterium human, plant, or animal. Indeed, RFLP technology has triggered a race to map the entire human genome. No longer does one need to wait for a serendipitous observation, such as a red blood cell antibody with a new agglutination pattern, to discover a new allele or locus. Systematically exploring a chromosome with restriction endonucleases and "genetic probes" will reveal variation that can be divided into "sites" and loci, and which can then be applied to traditional genetic analyses.The applications arising from RFLPs have ushered in a new golden age in genetics. Within the next 10 years the entire human genome, all 22 autosomes and the sex chromosomes, will be densely mapped for RFLPs. As the number of DNA polymorphisms increases, and the space between them on each chromosome decreases, the power of the technology will be realized in practical effects. Loci that 0 1989 Alan R. Liss, Inc.

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Newly established human retinoblastoma cell lines exhibit an “immortalized” but not an invasive phenotype in vitro

Griegel¹,

Chen²,

Frötschl

et al. 1990

Intl Journal of Cancer

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Retinoblastoma (RB), an intraocular childhood tumor occurring in a hereditary (mostly bilateral) or non-hereditary (unilateral) form, is associated with the inactivation of both alleles of a putative tumor suppressor gene (RB-I) located on chromosome 13q14. Both the process of RB development and the biological characteristics of RB cells are as yet poorly understood. We have established 7 new RBL lines (RBL13, RBL14, RBL18 and RBL30, derived from unilateral RB; and RBL7, RBL15 and RBL20, derived from bilateral RB). Southern blot analyses of restriction fragment length polymorphisms in DNA samples from 6 cell lines revealed loss of constitutional heterozygosity at one or several polymorphic loci on chromosome 13 in 4 cases. Gross deletions involving the RB-I locus and amplification of the N-myc gene were not detected in any of the RBL lines. The phenotypic properties of the RBL lines were analyzed in comparison with cells from the original RB tumors, with 4 RB lines established by others (RB383, RB355, RB247C3 and Y79) and with the adenovirus-EIA-transformed human retinoblast line HER-Xhol-CC2. It was found that RB tumors consist of phenotypically heterogeneous cell subpopulations with varying nutrient requirements and differentiation potential in vitro. All cell lines showed the typical characteristics of established ("immortalized") cells. In some cases, cells from original RB tumors or cell lines were able to form colonies when cell aggregates of 2-10 cells were suspended in semi-solid agar medium; however, anchorage-independent colonies never developed from single cells. Cell lines RBL13, RBL18, RB247C3, RB355, RB383 and Y79 were tested for invasion into embryonic chick heart fragments in vitro and found to be non-invasive. None of the RBL or RB lines were tumorigenic in nu/nu (T-) mice. Y79 cells (propagated in culture for many years) exhibited properties distinctly different from those of the other cell lines, and thus cannot be considered phenotypically representative of RB cells.

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An anonymous single copy genomic clone at 13q12–13q13 identifies three RFLPs [HGM8] assignment no. D13S11]

Cited by 6 publications

References 0 publications

Report of the committee on the genetic constitution of chromosome 13

Report of the committee on the genetic constitution of chromosome 13

Restriction fragment length polymorphism (RFLP)

Newly established human retinoblastoma cell lines exhibit an “immortalized” but not an invasive phenotype in vitro

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