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Literature DB >> 2567272

Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome.

N Dahl¹, K Hammarström-Heeroma, P Goonewardena, C Wadelius, K H Gustavson, G Holmgren, G J van Ommen, U Pettersson.

Abstract

A new cloned DNA probe (U6.2), which recognizes polymorphisms near the locus for the fragile-X syndrome, was isolated. No recombinations were observed between the probe and the disease locus, although recombinations were observed with several other probes known to be located close to the fragile site. The locus defined by the probe, DXS304, cosegregated with the fragile-X phenotype in 29 informative meioses (zeta = 4.97, tau = 0.00). The degree of polymorphism at this locus and its proximity to the fragile-X locus makes it useful for carrier diagnosis and as a new starting point for attempts to clone the gene responsible for the disease.

Entities: Disease

Mesh：

Substances：

Year: 1989 PMID： 2567272 DOI： 10.1007/BF00291157

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

15 in total

1. Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

Authors: K E Davies; M G Mattei; J F Mattei; H Veenema; S McGlade; K Harper; N Tommerup; K B Nielsen; M Mikkelsen; P Beighton
Journal: Hum Genet Date: 1985 Impact factor: 4.132

2. Analysis of linkage relationships between genetic markers around the fragile X locus with special reference to the daughters of normal transmitting males.

Authors: R M Winter; M E Pembrey
Journal: Hum Genet Date: 1986-09 Impact factor: 4.132

3. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors: J Ott
Journal: Am J Hum Genet Date: 1974-09 Impact factor: 11.025

4. Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

Authors: B Arveiler; I Oberlé; A Vincent; M H Hofker; P L Pearson; J L Mandel
Journal: Am J Hum Genet Date: 1988-02 Impact factor: 11.025

5. Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.

Authors: M H Hofker; A A Bergen; M I Skraastad; N J Carpenter; H Veenema; J M Connor; E Bakker; G J van Ommen; P L Pearson
Journal: Am J Hum Genet Date: 1987-04 Impact factor: 11.025

Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome.

1. Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

2. Analysis of linkage relationships between genetic markers around the fragile X locus with special reference to the daughters of normal transmitting males.

3. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

4. Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

5. Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.

6. RFLP for linkage analysis of fragile X syndrome.

7. Human genetics: fragile sites still a mystery.

Review 8. Diagnosis of genetic disease using recombinant DNA. Supplement.

9. Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

10. Population incidence and segregation ratios in the Martin-Bell syndrome.

1. Defining DNA diagnostic tests appropriate or standard clinical care.

Review 2. The fragile X: progress toward solving the puzzle.

3. New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus.

4. Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

5. Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.

6. Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.

7. X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.