Article: Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees

Two unrelated pedigrees, which show recurrence of Emery-Dreifuss muscular dystrophy (EDMD) in three generations, have been studied using 13 X-linked DNA polymorphisms and somatic cell hybrids to establish the phase of the corresponding alleles in some obligate carriers. The reconstruction of cross-over points on the X chromosomes carrying the EDMD gene excludes from mapping most regions of the X chromosome except for the terminal portion of Xq. Pooled linkage data from the two pedigrees confirm the linkage previously reported with locus DXS15. A cross-over in a carrier female suggests that the EDMD gene is probably located distally to DXS15. In addition the recombinant meioses from one of the two pedigrees suggest the following order for some Xq polymorphic loci: DXS1 (DXYS1-DXS178) DXS42 (F9-DXS15).

Citing Articles

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

Yates J, Warner J, Smith J, Deymeer F, Azulay J, Hausmanowa-Petrusewicz I J Med Genet. 1993; 30(2):108-11.

PMID: 8445613 PMC: 1016264. DOI: 10.1136/jmg.30.2.108.

Emery-Dreifuss syndrome.

EMERY A J Med Genet. 1989; 26(10):637-41.

PMID: 2685312 PMC: 1015715. DOI: 10.1136/jmg.26.10.637.

Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.

Consalez G, Thomas N, Stayton C, Knight S, Johnson M, Hopkins L Am J Hum Genet. 1991; 48(3):468-80.

PMID: 1998333 PMC: 1682981.

Recent advances in understanding muscular dystrophy.

Bushby K Arch Dis Child. 1992; 67(10):1310-2.

PMID: 1444538 PMC: 1793930. DOI: 10.1136/adc.67.10.1310.

References

1.

Roncuzzi L, Fadda S, Mochi M, Prosperi L, Sangiorgi S, Santamaria R . Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids. Am J Hum Genet. 1985; 37(2):407-17. PMC: 1684576. View

2.

Rigby P, Dieckmann M, Rhodes C, Berg P . Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977; 113(1):237-51. DOI: 10.1016/0022-2836(77)90052-3. View

3.

EMERY A . X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type). Clin Genet. 1987; 32(5):360-7. DOI: 10.1111/j.1399-0004.1987.tb03302.x. View

4.

EMERY A, Dreifuss F . Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966; 29(4):338-42. PMC: 1064196. DOI: 10.1136/jnnp.29.4.338. View

5.

Dreifuss F, Hogan G . Survival in x-chromosomal muscular dystrophy. Neurology. 1961; 11:734-7. DOI: 10.1212/wnl.11.8.734. View

6.

Thomas N, Williams H, Elsas L, Hopkins L, Sarfarazi M, Harper P . Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. J Med Genet. 1986; 23(6):596-8. PMC: 1049843. DOI: 10.1136/jmg.23.6.596. View

7.

Kunkel L, Smith K, Boyer S, Borgaonkar D, Wachtel S, MILLER O . Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977; 74(3):1245-9. PMC: 430660. DOI: 10.1073/pnas.74.3.1245. View

8.

Lathrop G, Lalouel J . Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984; 36(2):460-5. PMC: 1684427. View

9.

Thomas P, Calne D, Elliott C . X-linked scapuloperoneal syndrome. J Neurol Neurosurg Psychiatry. 1972; 35(2):208-15. PMC: 494038. DOI: 10.1136/jnnp.35.2.208. View

10.

Yates J, Affara N, Jamieson D, Ferguson-Smith M, Hausmanowa-Petrusewicz I, Zaremba J . Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene. J Med Genet. 1986; 23(6):587-90. PMC: 1049841. DOI: 10.1136/jmg.23.6.587. View

11.

Rowland L, Fetell M, Olarte M, Hays A, Singh N, Wanat F . Emery-Dreifuss muscular dystrophy. Ann Neurol. 1979; 5(2):111-7. DOI: 10.1002/ana.410050203. View

Mapping of the Emery-Dreifuss Gene Through Reconstruction of Crossover Points in Two Italian Pedigrees