Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy.

Kean, Vanora; MacLeod, Heather L.; Thompson, M.W.; Ray, Peter N.; Verellen-Dumoulin, Ch.; Worton, R G

doi:10.1136/jmg.23.6.491

Cited by 9 publications

(3 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A complete characterization of the two translocation chromosomes at the nucleotide sequence level has confirmed that there is no major deletion or secondary rearrangem ent at the site of the exchange (Bodrug al. 1987) and has proven that the translocation occurred in the germ line of the patient's father (Kean et al 1986). This is, to our knowledge, the first demonstration of a translocation that has disrupted a gene to cause a genetic disease.…”

Section: Expressed Sequences From the Locusmentioning

confidence: 74%

The problem of Duchenne muscular dystrophy

Worton

Ray

Bodrug

et al. 1988

Phil. Trans. R. Soc. Lond. B

View full text Add to dashboard Cite

Duchenne muscular dystrophy (DMD) is a lethal X-linked muscular disorder. The biochemical defect remains unknown, but the gene responsible has been mapped to band Xp21. The gene has now been cloned in two laboratories solely from knowledge of its map location. L. M. Kunkel and his colleagues isolated genomic sequences (PERT 87) from within a large deletion causing DMD, whereas our group isolated genomic sequences (XJ) spanning the junction of an X-autosome translocation causing the disease. Chromosome walking by both groups has led to the isolation of over 400 kilobases of the PERT 87 and XJ region. Subclones of PERT 87 and XJ reveal restriction fragment length polymorphisms that segregate with the DMD gene in 95% of meioses, and fail to hybridize with DNA from about 8% of male patients. Selected subclones of PERT 87 and XJ contain exons that hybridize to muscle-derived complementary DNA (cDNA) clones. The cDNA clones detect a large (16 kilobase) message. Analysis of deletions, mutations and translocations suggests a DMD gene of between two million and three million base pairs. The clones obtained so far are useful for attempts to generate antibody against the gene product and for carrier identification and prenatal diagnosis.

show abstract

Section: Expressed Sequences From the Locusmentioning

confidence: 74%

The problem of Duchenne muscular dystrophy

Worton

Ray

Bodrug

et al. 1988

Phil. Trans. R. Soc. Lond. B

View full text Add to dashboard Cite

show abstract

“…Table 4 summarises the number of informative meioses and the number of recombinations observed in pairwise combinations of DMD and the XJ haplotype with one another and each with probes RC8, D2, 99-6, C7, the pERT87-1/87-8 haplotype, 754, and L128. The cluster DMD-pERT87-XJ lies between C7 and 754, but the arrangement of these three loci in relation to one another cannot be inferred from the recombination data alone, although physical mapping has shown that pERT87 is telomeric to XJ (fig 2).°O 32 We have found two subjects recombinant for DMD and XJ in 45 informative meioses. The relevant pedigrees are presented in fig 3.…”

Section: Linkage Disequilibrium Within Xjmentioning

confidence: 76%

Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy.

Thompson¹,

Ray²,

Belfall³

et al. 1986

Journal of Medical Genetics

Self Cite

View full text Add to dashboard Cite

SUMMARY Cloning of a DNA segment including the translocation breakpoint in a female with an X;21 translocation and X linked muscular dystrophy has led to identification of three subclones which detect polymorphic markers. The alleles of these markers, XJ1 1, XJ1-2, and XJ2 2, are in strong linkage disequilibrium. Linkage analysis in 31 families with Duchenne or Becker muscular dystrophy has shown recombination within the XJ segment in one case, and recombination of DMD with both the XJ segment and the pERT87 segment in a second, but has revealed no recombination between the XJ and pERT87 segments. The XJ markers increase the proportion of DMD and BMD families that are informative for carrier detection and prenatal diagnosis, but in view of the risk of recombination they must be used with caution. The site(s) of the DMD mutation(s) relative to the XJ and pERT87 markers, and the detailed molecular structure of the DMD region, remain to be determined.The locus for Duchenne muscular dystrophy (DMD)

show abstract

“…A small number of females are affected and 23 such patients have been found to have a de novo reciprocal Xautosome translocation with one breakpoint in the Xp21 region, the autosomal breakpoints being variable (Boyd et al 1986). The parental origin of five such de novo X-autosome translocations has been determined using cytogenetic analysis, RFLP analysis of somatic cell hybrids or DNA analysis using probes from the dystrophin gene (Bjerglund-Nielsen et al 1984;Kean et al 1986;Ribiero et al 1986;Bodrug et al 1990). The parental origin of five such de novo X-autosome translocations has been determined using cytogenetic analysis, RFLP analysis of somatic cell hybrids or DNA analysis using probes from the dystrophin gene (Bjerglund-Nielsen et al 1984;Kean et al 1986;Ribiero et al 1986;Bodrug et al 1990).…”

Section: Introductionmentioning

confidence: 99%

The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27ß methylation analysis

Robinson

Boyd

Cockburn³

et al. 1990

Genet. Res.

View full text Add to dashboard Cite

The parental origin of 3 de novo X-autosome translocations in females with Duchenne Muscular Dystrophy (DMD) was studied by means of methylation analysis using the X-linked probe M27 beta. In all three the translocation was found to be paternal in origin. The parental origin of X-autosome translocations in females with and without DMD is compared with other structural abnormalities of the X and with autosomal translocations.

show abstract

Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy.

Cited by 9 publications

References 10 publications

The problem of Duchenne muscular dystrophy

The problem of Duchenne muscular dystrophy

Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy.

The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27ß methylation analysis

Contact Info

Product

Resources

About