Literature DB >> 7557964

Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region.

L Florentin1, C Bili, K Kekou, N Tripodis, A Mavrou, C Metaxotou.   

Abstract

A systematic study of 42 Greek DMD/BMD families using 14 polymorphic markers that span the dystrophin gene was performed in order to assess the position and frequency of recombinants in the Greek population and to test whether "hot spots" of recombination and deletions coincide when exclusively studying DMD/BMD families. We report a low percentage of recombination between markers STR44 and STR50; otherwise, the distribution of recombination events in other parts of the gene is largely in agreement with previously published data on Centre d'Etude du Polymorphisme Humaine families. We therefore propose that recombination frequencies and the correlation between recombination and deletion "hot spots" should be evaluated on DMD/BMD families exclusively.

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Year:  1995        PMID: 7557964     DOI: 10.1007/bf00191800

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


  18 in total

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Authors:  M Krawczak; D N Cooper
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

2.  Mechanisms of insertional mutagenesis in human genes causing genetic disease.

Authors:  D N Cooper; M Krawczak
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

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Authors:  P R Clemens; R G Fenwick; J S Chamberlain; R A Gibbs; M de Andrade; R Chakraborty; C T Caskey
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

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Authors:  R G Roberts; A J Montandon; M Bobrow; D R Bentley
Journal:  Nucleic Acids Res       Date:  1989-08-11       Impact factor: 16.971

5.  Recombination at the human alpha-globin gene cluster: sequence features and topological constraints.

Authors:  R D Nicholls; N Fischel-Ghodsian; D R Higgs
Journal:  Cell       Date:  1987-05-08       Impact factor: 41.582

6.  Molecular analysis of human X-linked diseases.

Authors:  K E Davies; S P Ball; H R Dorkins; S M Forrest; S J Kenwrick; A W King; I J Lavenir; S A McGlade; M N Patterson; T J Smith
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1986

7.  Report of the Committee on Methods of Linkage Analysis and Reporting.

Authors:  P M Conneally; J H Edwards; K K Kidd; J M Lalouel; N E Morton; J Ott; R White
Journal:  Cytogenet Cell Genet       Date:  1985

8.  Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.

Authors:  L Florentin; A Mavrou; K Kekou; C Metaxotou
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

9.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

10.  Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene.

Authors:  S Abbs; R G Roberts; C G Mathew; D R Bentley; M Bobrow
Journal:  Genomics       Date:  1990-08       Impact factor: 5.736

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  2 in total

1.  A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern Italy.

Authors:  Antonella Carsana; Giulia Frisso; Maria Roberta Tremolaterra; Elisabetta Ricci; Domenico De Rasmo; Francesco Salvatore
Journal:  J Mol Diagn       Date:  2007-02       Impact factor: 5.568

2.  DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years.

Authors:  Xingjian Zhong; Siying Cui; Lina Liu; Yuxia Yang; Xiangdong Kong
Journal:  BMC Med Genomics       Date:  2021-07-08       Impact factor: 3.063

  2 in total

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