{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:11:27Z","timestamp":1760955087625,"version":"build-2065373602"},"reference-count":22,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,12]]},"abstract":"<jats:p>Thirteen marker loci localised on the short arm of the X chromosome are available for use in genetic studies for Duchenne muscular dystrophy (DMD). This large number of probes detecting about 20 RFLPs encouraged us to set up a standard procedure using a sequence of selected probes and restriction enzymes for the diagnosis of DMD families. The application of DNA probe analysis for carrier detection and prenatal diagnosis, involving 61 pedigrees of both familial and isolated cases, has yielded the following results. Carrier detection using flanking markers was possible in more than 75% of the cases (104 out of 136 females) with a reliability of better than 98%. Prenatal diagnosis was possible in 95% of the cases (65 out of 68 proven carriers or women at risk). Twenty-three prenatal diagnoses were performed on male fetuses; 13 appeared to have a low risk for DMD (less than 1%) and thus the pregnancies continued. Seven have since come to term and the male infants have normal CK levels. The genetic distances of the loci relative to the DMD locus and their order on the short arm of the X chromosome were deduced from our total DMD family material and are not significantly different from those reported earlier. For 754 (DXS84) we found a genetic distance of 5 cM with a lod score of +12.4 and 95% confidence limits between 2 and 12 cM. Similar data were obtained for pERT87 (DXS164), suggesting that in our family material both loci are tightly linked. Multiply informative recombination showed that both 754 and pERT87 map proximal to the DMD mutations in the cases studied. The high frequency of DMD mutations and its relation to the observed instability in this part of the genome will be discussed. Unequal crossing over is proposed as one of the mechanisms contributing to the high mutation frequency.<\/jats:p>","DOI":"10.1136\/jmg.23.6.573","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"573-580","source":"Crossref","is-referenced-by-count":46,"title":["DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure."],"prefix":"10.1136","volume":"23","author":[{"given":"E","family":"Bakker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E J","family":"Bonten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L F","family":"De Lange","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Veenema","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Majoor-Krakauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M H","family":"Hofker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G J","family":"Van Ommen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P L","family":"Pearson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1986,12,1]]},"reference":[{"key":"ref_1","article-title":"Review of studies on the proportion and origin of new mutants in Duchenne muscular dystrophy","volume-title":"Research in the origin and treatment of muscular dystrophy","author":"Moser, H.","year":"1984","unstructured":"Moser H. Review of studies on the proportion and origin of new mutants in Duchenne muscular dystrophy. In: ten Kate L, ed. Research in the origin and treatment of muscular dystrophy. Amsterdam: Excerpta Medica, 1984."},{"key":"ref_2","article-title":"Serum creatine kinase activity and carrier status for Duchenne muscular dystrophy","author":"Bullock, D.G.; McSweeny, F.M.; Whitehead, T.P.; Edwards, J.H.","year":"1979","unstructured":"Bullock DG, McSweeny FM, Whitehead TP, Edwards JH. Serum creatine kinase activity and carrier status for Duchenne muscular dystrophy. Lancet 1979;ii:1151.","journal-title":"Lancet"},{"key":"ref_3","first-page":"2302","article-title":"Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X-chromosome","volume":"11","author":"Davies, K.E.; Pearson, P.L.; Harper, P.S.","year":"1983","unstructured":"Davies KE, Pearson PL, Harper PS, et al. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X-chromosome. Nucleic Acids Res 1983;11:2302-12.","journal-title":"Nucleic Acids Res"},{"key":"ref_4","first-page":"\"546","article-title":"A strategy to reveal high frequency RFLPs along the human chromosome","volume":"36","author":"Aldridge, J.; Kunkel, L.M.; Bruns, G.","year":"1984","unstructured":"Aldridge J, Kunkel LM, Bruns G, et al. A strategy to reveal high frequency RFLPs along the human chromosome. Am J Hum Genet 1984;36:546-64. s Hofker MH, Wapenaar MC, Goor N, et al. Isolation of probes detecting RFLPs from X-chromosome specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet 1985;70:148-56.","journal-title":"Am J Hum Genet; Isolation of probes detecting RFLPs from X-chromosome specific libraries: potential use for diagnosis of Duchenne muscular dystrophy"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/S0140-6736(85)91325-X","article-title":"Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs","volume":"i:","author":"Bakker, E.; Hofker, M.H.; Goor, N.","year":"1985","unstructured":"Bakker E, Hofker MH, Goor N, et al. Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet 1985;i:655-8.","journal-title":"Lancet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"4778","DOI":"10.1073\/pnas.82.14.4778","article-title":"Specific cloning of DNA fragments from the DNA from a patient with an X-chromosome deletion","volume":"82","author":"Kunkel, L.M.; Monaco, A.P.; Middlesworth, W.","year":"1985","unstructured":"Kunkel LM, Monaco AP, Middlesworth W, et al. Specific cloning of DNA fragments from the DNA from a patient with an X-chromosome deletion. Proc Natl Acad Sci USA 1985;82:4778-82.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_7","first-page":"250","article-title":"Minor Xp2l chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa and McLeod syndrome","volume":"37","author":"Francke, U.; Ochs, H.D.; de Martinville, B.","year":"1985","unstructured":"Francke U, Ochs HD, de Martinville B, et al. Minor Xp2l chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa and McLeod syndrome. Am J Hum Genet 1985;37:250-67.","journal-title":"Am J Hum Genet"},{"key":"ref_8","first-page":"73","article-title":"Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 1985; 316: 845-48. \" Kunkel LM, Hejtmancik JF, Caskey CT, et al. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy","volume":"322","author":"Monaco, A.P.; Bertelson, C.J.; Middlesworth, W.","year":"1986","unstructured":"Monaco AP, Bertelson CJ, Middlesworth W, et al. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 1985;316:845-48. \" Kunkel LM, Hejtmancik JF, Caskey CT, et al. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 1986;322:73-7.","journal-title":"Nature"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1159\/000132178","article-title":"Report of the committee on the genetic constitution of the X and Y chromosome. HGM8","volume":"40","author":"Goodfellow, P.N.; Davies, K.E.; Ropers, H.H.","year":"1985","unstructured":"Goodfellow PN, Davies KE, Ropers HH. Report of the committee on the genetic constitution of the X and Y chromosome. HGM8. Cytogenet Cell Genet 1985;40:296-352.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1159\/000132180","article-title":"Report of the committee on human gene mapping by recombinant DNA techniques","volume":"40","author":"Willard, H.F.; Skolnick, M.H.; Pearson, P.L.; Mandel, J.L.","year":"1985","unstructured":"Willard HF, Skolnick MH, Pearson PL, Mandel JL. Report of the committee on human gene mapping by recombinant DNA techniques. Cytogenet Cell Genet 1985;40:360-489.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_11","article-title":"First trimester chromosome analysis of complex structural rearrangements with banding on chorionic villi","author":"Sachs, E.S.; van Hemel, J.O.; Galjaard, H.","year":"1983","unstructured":"Sachs ES, van Hemel JO, Galjaard H, et al. First trimester chromosome analysis of complex structural rearrangements with banding on chorionic villi. Lancet 1983;ii: 1426.","journal-title":"Lancet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1093\/oxfordjournals.bmb.a071624","article-title":"Duchenne muscular dystrophy: genetic aspects, carrier detection and antenatal diagnosis","volume":"36","author":"Emery, A.E.H.","year":"1980","unstructured":"Emery AEH. Duchenne muscular dystrophy: genetic aspects, carrier detection and antenatal diagnosis. Br Med Bull 1980;36:117-22.","journal-title":"Br Med Bull"},{"article-title":"Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination. Clin Genet","author":"Bakker, E.; Pearson, P.L.","key":"ref_13","unstructured":"Bakker E, Pearson PL. Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination. Clin Genet (in press)."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/ajmg.1320120407","article-title":"Does unequal crossing-over contribute to the mutation rate in Duchenne muscular dystrophy?","volume":"12","author":"Winter, R.M.; Pembrey, M.E.","year":"1982","unstructured":"Winter RM, Pembrey ME. Does unequal crossing-over contribute to the mutation rate in Duchenne muscular dystrophy? Am J Med Genet 1982;12:437-41.","journal-title":"Am J Med Genet"},{"key":"ref_15","first-page":"312","article-title":"A probable sex rate difference in some mutation rates","volume":"29","author":"Vogel, F.","year":"1977","unstructured":"Vogel F. A probable sex rate difference in some mutation rates. Am J Hum Genet 1977;29:312-9.","journal-title":"Am J Hum Genet"},{"key":"ref_16","first-page":"582","article-title":"Estimation of male to female ratio of mutation rates","volume":"32","author":"Winter, R.M.","year":"1980","unstructured":"Winter RM. Estimation of male to female ratio of mutation rates. Am J Hum Genet 1980;32:582-8.","journal-title":"Am J Hum Genet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/318672a0","article-title":"Cloning of the breakpoint of an X; 21 translocation associated with Duchenne muscular dystrophy","volume":"318","author":"Ray, P.N.; Belfall, B.; Duff, C.","year":"1985","unstructured":"Ray PN, Belfall B, Duff C, et al. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature 1985;318:672-5.","journal-title":"Nature"},{"article-title":"A deletion map covering at least 4 million bp surrounding the human loci for Duchenne muscular dystrophy and glycerol kinase deficiency","author":"van Ommen GJB; JM, Verkerk; E, Bakker","key":"ref_18","unstructured":"van Ommen GJB, Verkerk JM, Bakker E, et al. A deletion map covering at least 4 million bp surrounding the human loci for Duchenne muscular dystrophy and glycerol kinase deficiency. Cell (in press)."},{"key":"ref_19","first-page":"518","volume-title":"a-globin locus in humans. Proc Natl Acad Sci USA","volume":"77","author":"Goossens, M.","year":"1980","unstructured":"Goossens M, Dozy AM, Embury SH, et al. Triplicated a-globin locus in humans. Proc Natl Acad Sci USA 1980;77:518-21."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/0092-8674(79)90022-9","article-title":"Recent developments in the molecular genetics of human hemoglobin","volume":"16","author":"Weatherall, D.J.; Clegg, J.B.","year":"1979","unstructured":"Weatherall DJ, Clegg JB. Recent developments in the molecular genetics of human hemoglobin. Cell 1979;16:467-79.","journal-title":"Cell"},{"key":"ref_21","first-page":"140","article-title":"Mutation in the LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic 'domains","volume":"227","author":"Lehrman, M.A.; Schneider, W.J.; Sudhof, T.C.","year":"1984","unstructured":"Lehrman MA, Schneider WJ, Sudhof TC, et al. Mutation in the LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic 'domains. Science 1984;227: 140-6.","journal-title":"Science"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/0092-8674(85)90309-5","article-title":"Molecular probes define different regions of the mouse t complex","volume":"40","author":"Fox, H.S.; Martin, G.J.; Loyn, M.F.; Herrmann, B.","year":"1985","unstructured":"Fox HS, Martin GJ, Loyn MF, Herrmann B, et al. Molecular probes define different regions of the mouse t complex. Cell 1985;40:63-9.","journal-title":"Cell"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.23.6.573","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:22:36Z","timestamp":1760764956000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.23.6.573"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,12]]},"references-count":22,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1986,12,1]]},"published-print":{"date-parts":[[1986,12]]}},"alternative-id":["10.1136\/jmg.23.6.573"],"URL":"https:\/\/doi.org\/10.1136\/jmg.23.6.573","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1986,12]]}}}