PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
J Med Genet. 1994 January; 31(1): 37–40.
PMCID: PMC1049596

Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats.

Abstract

Myotonic dystrophy (DM) is associated with an increased number of CTG repeats in the 3' untranslated region of the myotonin gene. Because DM has not been observed in southern African Negroids, a study of the CTG repeat polymorphism in this population was undertake. A total of 210 unrelated subjects was studied by PCR analysis of the trinucleotide repeat in the DM gene and the size and distribution of the CTG repeat were determined. The alleles ranged in length from five to 22 repeats. A previously undescribed BglI polymorphism was found which could lead to erroneous diagnosis of DM in people from this population. South African Negroids were found to have significantly fewer large repeat lengths than do white and Japanese populations. It is suggested that the occurrence of fewer large CTG repeats in the normal range may, in part, explain the absence of DM in southern African Negroids.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (708K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992 Feb 6;355(6360):545–546. [PubMed]
  • Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature. 1992 Feb 6;355(6360):547–548. [PubMed]
  • Aslanidis C, Jansen G, Amemiya C, Shutler G, Mahadevan M, Tsilfidis C, Chen C, Alleman J, Wormskamp NG, Vooijs M, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature. 1992 Feb 6;355(6360):548–551. [PubMed]
  • Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 1992 Feb 21;68(4):799–808. [PubMed]
  • Fu YH, Pizzuti A, Fenwick RG, Jr, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992 Mar 6;255(5049):1256–1258. [PubMed]
  • Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barceló J, O'Hoy K, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. 1992 Mar 6;255(5049):1253–1255. [PubMed]
  • Hunter A, Tsilfidis C, Mettler G, Jacob P, Mahadevan M, Surh L, Korneluk R. The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet. 1992 Nov;29(11):774–779. [PMC free article] [PubMed]
  • Lotz BP, van der Meyden CH. Myotonic dystrophy. Part I. A genealogical study in the northern Transvaal. S Afr Med J. 1985 May 17;67(20):812–814. [PubMed]
  • Ashizawa T, Epstein HF. Ethnic distribution of myotonic dystrophy gene. Lancet. 1991 Sep 7;338(8767):642–643. [PubMed]
  • Sykes BC. DNA in heritable disease. Lancet. 1983 Oct 1;2(8353):787–788. [PubMed]
  • Shelbourne P, Winqvist R, Kunert E, Davies J, Leisti J, Thiele H, Bachmann H, Buxton J, Williamson B, Johnson K. Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype. Hum Mol Genet. 1992 Oct;1(7):467–473. [PubMed]
  • Davies J, Yamagata H, Shelbourne P, Buxton J, Ogihara T, Nokelainen P, Nakagawa M, Williamson R, Johnson K, Miki T. Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations. J Med Genet. 1992 Nov;29(11):766–769. [PMC free article] [PubMed]
  • Imbert G, Kretz C, Johnson K, Mandel JL. Origin of the expansion mutation in myotonic dystrophy. Nat Genet. 1993 May;4(1):72–76. [PubMed]
  • Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, Schlessinger D, Sutherland GR, Richards RI. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science. 1991 Jun 21;252(5013):1711–1714. [PubMed]
  • La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991 Jul 4;352(6330):77–79. [PubMed]
  • Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993 Jul;4(3):221–226. [PubMed]
  • Caskey CT, Pizzuti A, Fu YH, Fenwick RG, Jr, Nelson DL. Triplet repeat mutations in human disease. Science. 1992 May 8;256(5058):784–789. [PubMed]
  • Suthers GK, Huson SM, Davies KE. Instability versus predictability: the molecular diagnosis of myotonic dystrophy. J Med Genet. 1992 Nov;29(11):761–765. [PMC free article] [PubMed]
  • Heitz D, Devys D, Imbert G, Kretz C, Mandel JL. Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet. 1992 Nov;29(11):794–801. [PMC free article] [PubMed]
  • Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT, Goonewardena P, Tarleton J, Schwartz C, et al. Evidence of founder chromosomes in fragile X syndrome. Nat Genet. 1992 Jul;1(4):257–260. [PubMed]
  • MacDonald ME, Novelletto A, Lin C, Tagle D, Barnes G, Bates G, Taylor S, Allitto B, Altherr M, Myers R, et al. The Huntington's disease candidate region exhibits many different haplotypes. Nat Genet. 1992 May;1(2):99–103. [PubMed]
  • Richards RI, Sutherland GR. Dynamic mutations: a new class of mutations causing human disease. Cell. 1992 Sep 4;70(5):709–712. [PubMed]
  • Harley HG, Walsh KV, Rundle S, Brook JD, Sarfarazi M, Koch MC, Floyd JL, Harper PS, Shaw DJ. Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q. Hum Genet. 1991 May;87(1):73–80. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group