Fluorescence in Situ Hybridisation Studies Provide Evidence for Somatic Mosaicism in De Novo Dystrophin Gene Deletions

Overview

Journal Hum Genet

Specialty Genetics

Date 1995 Jan 1

PMID 7814024

Citations 2

Authors

D J Bunyan

J A Crolla

A L Collins

D O Robinson

Affiliations

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Abstract

The fluorescence in situ hybridisation (FISH) technique was tested for its ability to detect somatic mosaicism in mothers of isolated deletion cases of Duchenne/Becker muscular dystrophy. A control female with known germline and somatic mosaicism was examined, and both the normal cell line and the carrier cell line were detected. Subsequent FISH analysis of three other mothers of boys with apparent de novo dystrophin gene deletions revealed a second patient with a high level of somatic mosaicism, suggesting that a proportion of de novo dystrophin gene deletions occur as mitotic errors early in development rather than as meiotic errors during gametogenesis.

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References

Clemens P, Fenwick R, Chamberlain J, Gibbs R, de Andrade M, Chakraborty R . Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991; 49(5):951-60. PMC: 1683265. View

Bakker E, Veenema H, den Dunnen J, Van Broeckhoven C, Grootscholten P, Bonten E . Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet. 1989; 26(9):553-9. PMC: 1015693. DOI: 10.1136/jmg.26.9.553. View

Lichter P, Tang C, Call K, Hermanson G, Evans G, Housman D . High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science. 1990; 247(4938):64-9. DOI: 10.1126/science.2294592. View

Bunyan D, Robinson D, Collins A, Cockwell A, Bullman H, Whittaker P . Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy. Hum Genet. 1994; 93(5):541-4. DOI: 10.1007/BF00202820. View

Ried T, Mahler V, Vogt P, Blonden L, van Ommen G, Cremer T . Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus. Hum Genet. 1990; 85(6):581-6. DOI: 10.1007/BF00193578. View

Kontusaari S, Tromp G, Kuivaniemi H, Stolle C, Pope F, Prockop D . 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. Am J Hum Genet. 1992; 51(3):497-507. PMC: 1682722. View

Muller H . The production of mutations. J Hered. 1947; 38(9):258-70. View

Wallis G, Starman B, Zinn A, Byers P . 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. Am J Hum Genet. 1990; 46(6):1034-40. PMC: 1683813. View

Hoffman E, Brown Jr R, Kunkel L . Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987; 51(6):919-28. DOI: 10.1016/0092-8674(87)90579-4. View

10.

Darras B, Francke U . Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA. Am J Hum Genet. 1988; 43(5):612-9. PMC: 1715524. View

11.

EMERY A . Population frequencies of inherited neuromuscular diseases--a world survey. Neuromuscul Disord. 1991; 1(1):19-29. DOI: 10.1016/0960-8966(91)90039-u. View

12.

Abbs S, Yau S, Clark S, Mathew C, Bobrow M . A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. J Med Genet. 1991; 28(5):304-11. PMC: 1016847. DOI: 10.1136/jmg.28.5.304. View

13.

Adinolfi M, Stone S, Moralli D . Carrier detection of deletions in female relatives of X-linked disorders by non-isotopic in situ hybridisation. Bioessays. 1992; 14(6):421-6. DOI: 10.1002/bies.950140614. View

14.

Brocker-Vriends A, Briet E, Dreesen J, Bakker B, Reitsma P, Pannekoek H . Somatic origin of inherited haemophilia A. Hum Genet. 1990; 85(3):288-92. DOI: 10.1007/BF00206748. View

15.

Roberts R, Barby T, Manners E, Bobrow M, Bentley D . Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet. 1991; 49(2):298-310. PMC: 1683309. View