» Articles » PMID: 3860471

Multipoint Linkage Analysis of the Short Arm of the Human X Chromosome in Families with X-linked Muscular Dystrophy

Overview
Journal Hum Genet
Specialty Genetics
Date 1985 Jan 1
PMID 3860471
Citations 14
Authors
Affiliations
Soon will be listed here.
Abstract

Sixteen three generation families from the West of Scotland with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) have been studied using the Xg blood group and seven cloned DNA sequences which recognise DNA polymorphisms on the short arm of the X chromosome (Xp). Linkage has been established between DMD and probe 754 with a maximum lod score (Z) of 4.47 at a recombination fraction (theta) of 0.04. DMD has also been linked to probe 99-6 (Z = 3.75, theta = 0.03). Combining the data in this study with that of previously published work has established linkage between DMD and L1.28 (Z = 4.42, theta = 0.17) and altered the linkage estimate between BMD and L1.28 (Z = 3.50, theta = 0.22). An approximate order for the loci has been deduced by the study of recombinant chromosomes in phase known families informative for three or more loci. The proposed order is centromere--L1.28--754--DMD/BMD--99-6--D2--782--Xg. These results conclusively map both DMD and BMD to the central region of Xp and add weight to the original suggestion that they may be allelic.

Citing Articles

Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X-chromosome and autosomal sequences.

Affara N, Florentin L, Morrison N, Kwok K, Mitchell M, Cook A Nucleic Acids Res. 1986; 14(13):5353-73.

PMID: 3737403 PMC: 311545. DOI: 10.1093/nar/14.13.5353.


Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry.

Wilcox D, Cooke A, Colgan J, Boyd E, Aitken D, Sinclair L Hum Genet. 1986; 73(2):175-80.

PMID: 3721503 DOI: 10.1007/BF00291610.


Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes.

Affara N, Ferguson-Smith M, Magenis R, Tolmie J, Boyd E, Cooke A Nucleic Acids Res. 1987; 15(18):7325-42.

PMID: 3658694 PMC: 306251. DOI: 10.1093/nar/15.18.7325.


Atypical form of X-linked proximal pseudohypertrophic muscular dystrophy.

Spiegler A, Hausmanowa-Petrusewicz I, Borkowska J, Herrmann F J Neurol. 1987; 234(3):163-71.

PMID: 3585425 DOI: 10.1007/BF00314137.


A multipoint linkage analysis program for X-linked disorders, with the example of Duchenne muscular dystrophy and seven DNA probes.

Clayton J Hum Genet. 1986; 73(1):68-72.

PMID: 3458666 DOI: 10.1007/BF00292667.


References
1.
Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T . A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984; 36(3):546-64. PMC: 1684472. View

2.
Wieacker P, Davies K, Cooke H, Pearson P, Williamson R, Bhattacharya S . Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet. 1984; 36(2):265-76. PMC: 1684417. View

3.
Ott J . Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974; 26(5):588-97. PMC: 1762722. View

4.
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

5.
Dubowitz V . The female carrier of Duchenne muscular dystrophy. Br Med J (Clin Res Ed). 1982; 284(6327):1423-4. PMC: 1498325. DOI: 10.1136/bmj.284.6327.1423. View