Literature DB >> 8168831

Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy.

D J Bunyan1, D O Robinson, A L Collins, A E Cockwell, H M Bullman, P A Whittaker.   

Abstract

The family of a male with Duchenne muscular dystrophy (DMD) and a deletion within the dystrophin gene has been studied. Polymerase chain reaction analysis of ectopic mRNA from peripheral blood T+B lymphocytes and the use of (CA)n repeat polymorphisms in and around the deleted region showed the proband's mother to be both a germline mosaic and a somatic mosaic for the deletion seen in her son. The mutation therefore occurred as a mitotic event early in embryogenesis.

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Year:  1994        PMID： 8168831     DOI： 10.1007/bf00202820

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


  26 in total

1.  Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

Authors:  S Kontusaari; G Tromp; H Kuivaniemi; C Stolle; F M Pope; D J Prockop
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

2.  Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

Authors:  E Bakker; H Veenema; J T Den Dunnen; C van Broeckhoven; P M Grootscholten; E J Bonten; G J van Ommen; P L Pearson
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

3.  Germinal "mosaicism"--germline mutation or chimerism?

Authors:  R Witkowski
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

4.  Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.

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

5.  Tetranucleotide repeat polymorphism at the D21S11 locus.

Authors:  V Sharma; M Litt
Journal:  Hum Mol Genet       Date:  1992-04       Impact factor: 6.150

6.  Dinucleotide repeat polymorphism at the human cardiac beta-myosin heavy chain gene (HMSYHCO1) locus.

Authors:  C A Warlick; S Ramachandra; S Mishra; H Donis-Keller
Journal:  Hum Mol Genet       Date:  1992-05       Impact factor: 6.150

7.  Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1.

Authors:  D R Rosen; P C Sapp; J O'Regan; H R Horvitz; D H Donaldson; C Nussbaum; J F Gusella; J L Haines; S Pestka; V Jung
Journal:  Hum Mol Genet       Date:  1992-10       Impact factor: 6.150

8.  Dinucleotide repeat polymorphism at the D13S71 locus.

Authors:  J L Weber; A E Kwitek; P E May
Journal:  Nucleic Acids Res       Date:  1990-08-11       Impact factor: 16.971

9.  Dinucleotide repeat polymorphisms at the D8S85, D8S87, and D8S88 loci.

Authors:  J L Weber; A E Kwitek; P E May; D Patterson; H Drabkin
Journal:  Nucleic Acids Res       Date:  1990-07-11       Impact factor: 16.971

10.  Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

Authors:  G A Wallis; B J Starman; A B Zinn; P H Byers
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025
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  8 in total

1.  Clustered microsatellite mutations in the pipefish Syngnathus typhle.

Authors:  A G Jones; G Rosenqvist; A Berglund; J C Avise
Journal:  Genetics       Date:  1999-07       Impact factor: 4.562

2.  Germline and somatic mosaicism in a female carrier of Hunter disease.

Authors:  R Froissart; I Maire; V Bonnet; T Levade; D Bozon
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

3.  Clusters of identical new mutation in the evolutionary landscape.

Authors:  R C Woodruff; H Huai; J N Thompson
Journal:  Genetica       Date:  1996-10       Impact factor: 1.082

Review 4.  A perspective on the evolution of germ-cell development and germinal mosaics of deleterious mutations.

Authors:  Ronny C Woodruff; Michael A Balinski; Juan L Bouzat
Journal:  Genetica       Date:  2015-06-26       Impact factor: 1.082

5.  The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

Authors:  A J van Essen; A L Kneppers; A H van der Hout; H Scheffer; I B Ginjaar; L P ten Kate; G J van Ommen; C H Buys; E Bakker
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

6.  Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions.

Authors:  D J Bunyan; J A Crolla; A L Collins; D O Robinson
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132

Review 7.  Genetic mosaics and the germ line lineage.

Authors:  Mark E Samuels; Jan M Friedman
Journal:  Genes (Basel)       Date:  2015-04-17       Impact factor: 4.096

8.  Human Germline Mutation and the Erratic Evolutionary Clock.

Authors:  Priya Moorjani; Ziyue Gao; Molly Przeworski
Journal:  PLoS Biol       Date:  2016-10-19       Impact factor: 8.029
  8 in total

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