Literature DB >> 2995231

Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.

H Dorkins, C Junien, J L Mandel, K Wrogemann, J P Moison, M Martinez, J M Old, S Bundey, M Schwartz, N Carpenter.   

Abstract

A DNA marker C7, localised Xp21.1-Xp21.3, has been studied in kindreds segregating for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). In DMD families four crossovers were observed in 38 informative meioses between C7 and the DMD locus (theta = 0.12, z max = +2.72). In BMD families no recombinants were observed in the 16 informative meioses studied. These data are consistent with the localisation of the mutations in these disorders being in the same region of Xp21. Studies in families also segregating for the DNA marker 754 support the previously reported physical order of these loci as X centromere-754-DMD-BMD-C7-X telomere. A recombination fraction of 0.11 (z max = +5.58) was found between DMD-754 by combining our previously published data with the data presented here. C7 and 754 thus provide good bridging markers for the diagnosis of DMD and BMD.

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Year:  1985        PMID： 2995231     DOI： 10.1007/bf00283362

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


  25 in total

Review 1.  Molecular genetics of the human X chromosome.

Authors:  K E Davies
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

2.  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

3.  Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.

Authors:  B S Emanuel; E H Zackai; S H Tucker
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

4.  Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.

Authors:  L M Kunkel; U Tantravahi; M Eisenhard; S A Latt
Journal:  Nucleic Acids Res       Date:  1982-03-11       Impact factor: 16.971

Review 5.  Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis.

Authors:  A E Emery
Journal:  Br Med Bull       Date:  1980-05       Impact factor: 4.291

6.  Gene for OTC: characterisation and linkage to Duchenne muscular dystrophy.

Authors:  K E Davies; P Briand; V Ionasescu; G Ionasescu; R Williamson; C Brown; C Cavard; L Cathelineau
Journal:  Nucleic Acids Res       Date:  1985-01-11       Impact factor: 16.971

7.  Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome.

Authors:  H M Kingston; N S Thomas; P L Pearson; M Sarfarazi; P S Harper
Journal:  J Med Genet       Date:  1983-08       Impact factor: 6.318

8.  Human X chromosome markers and Duchenne muscular dystrophy.

Authors:  K E Davies; A Speer; F Herrmann; A W Spiegler; S McGlade; M H Hofker; P Briand; R Hanke; M Schwartz; V Steinbicker
Journal:  Nucleic Acids Res       Date:  1985-05-24       Impact factor: 16.971

9.  Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy.

Authors:  C S Brown; N S Thomas; M Sarfarazi; K E Davies; L Kunkel; P L Pearson; H M Kingston; D J Shaw; P S Harper
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

10.  Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry.

Authors:  K E Davies; B D Young; R G Elles; M E Hill; R Williamson
Journal:  Nature       Date:  1981-10-01       Impact factor: 49.962
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  23 in total

1.  Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS.

Authors:  D Wöhrle; G Barbi; W Schulz; P Steinbach
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

2.  An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene.

Authors:  C Oudet; R Heilig; J L Mandel
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

3.  Detection of novel genetic markers by mismatch analysis.

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

4.  Localization of the McLeod locus (XK) within Xp21 by deletion analysis.

Authors:  C J Bertelson; A O Pogo; A Chaudhuri; W L Marsh; C M Redman; D Banerjee; W A Symmans; T Simon; D Frey; L M Kunkel
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

5.  Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.

Authors:  X Y Hu; P N Ray; E G Murphy; M W Thompson; R G Worton
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

6.  Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships.

Authors:  A Russo; G Barbujani; M L Mostacciuolo; F H Herrmann; A W Spiegler; G Galluzzi; G A Danieli
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

7.  Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.

Authors:  C J Bertelson; J A Bartley; A P Monaco; C Colletti-Feener; K Fischbeck; L M Kunkel
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

8.  Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.

Authors:  S E Bodrug; J R Roberson; L Weiss; P N Ray; R G Worton; D L Van Dyke
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

9.  Fragile X expression and X inactivation. I. The expression of the fragile site at Xq27.3 is not suppressed on inactive X chromosomes separated from the active homologue.

Authors:  D Wöhrle; J P Fryns; P Steinbach
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

10.  DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.

Authors:  C R Greenberg; J L Hamerton; M Nigli; K Wrogemann
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025
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