Prenatal diagnosis of congenital myotonic dystrophy in two Japanese families: Direct mutation analysis by a non-radioisotope PCR method and haplotype analysis with flanking DNA markers

Brain and Development

Volumn 18, Issue 2, 1996, Pages 122-126

  Nanba, Eiji ^a   Ito, Takashi ^b   Kadowaki, Kouji ^b   Makio, Akira ^b   Nakagawa, Mayumi ^b   Yamamoto, Toshiyuki ^a   Yuasa, Isao ^b   Takeshita, Kenzo ^a  

^a TOTTORI UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

Author keywords

CTG repeat; Dinucleotide repeat markers; DNA diagnosis; Myotonic dystrophy; PCR; Prenatal diagnosis

Indexed keywords

DNA MARKER; PROTEIN KINASE;

ADULT; ARTICLE; CASE REPORT; CHORION VILLUS; CHORION VILLUS SAMPLING; DIAGNOSTIC VALUE; DNA FLANKING REGION; FEMALE; FETUS; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RISK ASSESSMENT; UMBILICAL CORD BLOOD;

EID: 0029869440     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/0387-7604(95)00111-5     Document Type: Article

References (25)

1. Harper PS. Myotonic dystrophy. 2nd ed. Philadelphia: WB Saunders, 1989.
2. Harper PS, Harley HG, Reardon W, Shaw DJ. Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet 1992; 51: 10-6.
3. Ashizawa T, Dunne CJ, Dubel JR, et al. Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings. Neurology 1992; 42: 1871-7.
4. Ashizawa T, Dubel JR, Dunne PW, et al. Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat. Neurology 1992; 42: 1877-83.
5. Lopez de Munain A, Blanco A, Emparanza JI, et al. Anticipation in myotonic dystrophy: a parental-sex-related phenomenon. Neuroepidemiology 1994; 13: 75-8.
6. Bergoffen J, Kant J, Sladky J, McDonald-McGinn D, Zackai EH, Fischbeck KH. Paternal transmission of congenital myotonic dystrophy. J Med Genet 1994; 31: 518-20.
7. Ohya K, Tachi N, Chiba S, et al. Congenital myotonic dystrophy transmitted from an asymptomatic father with a DM-specific gene. Neurology 1994; 44: 1958-60.
8. Nakagawa M, Yamada H, Higuchi I, et al. A case of paternally inherited congenital myotonic dystrophy. J Med Genet 1994; 31: 397-400.
9. Brook JD, McCurrach ME, Harley HG, 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; 68: 799-808.
10. Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992; 255: 1253-5.
11. Lavedan C, Hofmann H, Shelbourne P, et al. Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers. J Med Genet 1991; 28: 89-91.
12. Reardon W, Floyd JL, Myring J, Lazarou LP, Meredith AL, Harper PS. Five years experience of predictive testing for myotonic dystrophy using linked DNA markers. Am J Med Genet 1992; 43: 1006-11.
13. Mulley JC, Gedeon AK, White SJ, Haan EA, Richards RI. Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers. J Med Genet 1991; 28: 448-52.
14. Shelbourne P, Davies J, Buxton J, et al. Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. N Engl J Med 1993; 328: 471-5.
15. Smeets HJ, Nillesen WM, Los F, et al. Prenatal diagnosis of myotonic dystrophy by direct mutation analysis [letter]. Lancet 1992; 340: 237-8.
16. Hecht BK, Donnelly A, Gedeon AK, Byard RW, Haan EA, Mulley JC. Direct molecular diagnosis of myotonic dystrophy. Clin Genet 1993; 43: 276-85.
17. Nanba E, Kohno Y, Matsuda A, et al. Nonradioactive DNA diagnosis for the fragile X syndrome in Japanese mentally retarded males. Brain Dev 1995; 17: 317-21.
18. Brown WT, Houck GEJ, Jeziorowska A, et al. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 1993; 270: 1569-75.
19. Nanba E, Nakagawa M, Maegaki Y, Takeshita K. Molecular analysis of a consanguineous family with myotonic dystrophy. Muscle Nerve 1994; Suppl 1: S207.
20. Jansen G, de Jong PJ, Amemiya C, et al. Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q. Genomics 1992; 13; 509-17.
21. Koch MC, Grimm T, Harley HG, Harper PS. Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet 1991; 48: 1084-91.
22. Castellvi-Bel S, Matilla T, Banchs MI, et al. Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1). J Med Genet 1994; 31: 654-5.
23. Caskey CT, Pizzuti A, Fu YH, Fenwick R Jr, Nelson DL. Triplet repeat mutations in human disease. Science 1992; 256: 784-9.
24. Richards RI, Sutherland GR. Dynamic mutations: A new class of mutations causing human disease. Cell 1992; 70: 709-12.
25. Bates G, Lehrach H. Trinucleotide repeat expansions and human genetic disease. BioEssays 1994; 16: 277-84.