Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)

European Journal of Human Genetics

Volumn 7, Issue 7, 1999, Pages 765-770

  Eraslan, Serpil ^a   Kayserili, Hülya ^c   Apak, Memnune Yüksel ^c   Kirdar, Betül ^b  

^a Duzen Laboratories   (Turkey)

^b BOGAZICI UNIVERSITY   (Turkey)

^c Department of Chemical Engineering ^*

Author keywords

DMD BMD; Missense mutation; Multiplex single stranded conformation analysis (SSCA); Nonsense mutation; Point mutations

Indexed keywords

ALANINE; DYSTROPHIN; PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BECKER MUSCULAR DYSTROPHY; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENETIC COUNSELING; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; NORMAL HUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SINGLE STRAND CONFORMATION POLYMORPHISM; TURKEY (REPUBLIC);

AMINO ACID SEQUENCE; ANIMALS; DYSTROPHIN; EXONS; FAMILY; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHY, DUCHENNE; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TURKEY;

EID: 0032744967     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200370     Document Type: Article

References (26)

1. Scriver CR, Beaudet AL, Sly WS, Valle D: Metabolic and Molecular Basis of Inherited Disease, 7th edn. McGraw Hill International (UK), 1997, pp 4199.
2. Beggs AH, Koenig M, Boyce FM, Kunkel LM: Detection of 98-percent DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990; 86(1): 45-48.
3. Gibbs RA, Chamberlain JS, Caskey CT: Diagnosis of new mutation diseases using a polymerase chain reaction. In: Erlich HA (ed.). PCR Technology: Principles and Applications for DNA Amplification. Stockton Press: New York, 1989, pp 71-191.
4. Hu XY, Burghes AH, Ray PN, Thompson MW, Murphy EG, Worton RG: Partial gene duplications in Duchenne and Becker muscular dystrophies. J Med Genet 1988; 25(6): 369-376.
5. Leiden Muscular Dystrophy website http://www.dmd.nl; Muscular dystrophy (point) mutation databases (/dys_ mutat.html)
6. Bulman DE, Gangopadhyay SB, Bebchuck KG, Worton RG, Ray PN: Point mutation in the human dystrophin gene: Identification through western blot analysis. Genomics 1991; 10(2): 457-460.
7. Kilimann MW, Pizzuti A, Grompe M, Caskey CT: Point mutation and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR. Hum Genet 1992; 89(3): 253-258.
8. Roest PA, Bout M, Van Der Tuijn AC et al: Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine-rich domain of dystrophin compatible with BMD. J Med Genet 1996; 33(11): 935-939.
9. Saad FA, Vita G, Toffolatti L, Danieli GA: A possible missense mutation detected in the dystrophin gene by double strand conformation analysis (DSCA). Neuromusc Disord 1994; 4(4): 335-341.
10. Prior TW, Wenger GD, Papp AC et al: Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to Duchenne muscular dystrophy carrier testing. Hum Mutat 1995; 5(3): 263-268.
11. Nigro V, Politano L, Nigro G, Romano SC, Molinari AM, Puca GA: Detection of a nonsense mutation in the dystrophin gene by multiplex SSCA. Hum Mol Genet 1992; 1(7): 517-520.
12. Kneppers AL, Deutz-Terlouw PP, Den Dunnen JT, Van Ommen GJB, Bakker E: Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation analysis (SSCA) analysis. Hum Mutat 1995; 5(3): 235-242.
13. Sitnik R, Campiotto S, Vainzof M et al: Novel point mutations in the dystrophin gene. Hum Mutat 1997; 10(3): 217-222.
14. Prior TW, Papp AC, Snyder PJ et al: Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection. Am J Med Genet 1994; 50(1): 68-73.
15. Akalin N, Zietkiewicz E, Makalowski W. Labuda D: Are CpG sites mutation hot spots in the dystrophin gene. Hum Mol Genet 1994; 3(8): 1425-1426.
16. Nigro V, Nigro G, Esposito MG et al: Novel small mutations along the DMD/BMD gene associated with different phenotypes. Hum Mol Genet 1994; 3(10): 1907-1908.
17. Prior TW, Papp AC, Snyder PJ et al: Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation. Hum Mol Genet 1993; 2(3): 311-313.
18. Roberts RG, Gardner RJ, Bobrow M: Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum Mutat 1994; 4(1): 1-11.
19. Tuffery S, Moine P Demaille J, Claustres M: Base substitutions in the human dystrophin gene: detection by using the single-strand conformation analysis (SSCA) technique. Hum Mutat 1993; 2(5): 368-374.
20. Lenk U, Hanke R, Kraft U, Grade K, Grunewald I, Speer A: Non-isotopic analysis of single strand conformation analysis (SSCA) in the exon 13 region of the human dystrophin gene. J Med Genet 1993; 30(11): 951-954.
21. Roberts RG, Bobrow M, Bentley DR: Point mutations in the dystrophin gene. Proc Natl Acad Sci USA 1992; 89(6): 2331-2335.
22. Yau SC, Roberts RG, Bentley DR et al. A MseI polymorphism in exon 48 of the dystrophin gene. Nucleic Acids Res 1991; 19(20): 5803.
23. Stephen F, Madden TL, Schaffer AA et al: Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 1997; 25: 3389-3402.
24. Corrado K, Mills PL, Chamberlain JS: Deletion analysis of the dystrophin-actin binding domain. FEBS Letters 1994; 344: 255-260.
25. Jarett HW, Foster JL: Alternate binding of actin and calmodulin to multiple sites on dystrophin. J Biol Chem 1995; 270(10): 5578-5586.
26. Prior TW, Papp AC, Snyder PJ: A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nat Genet 1993; 4: 357-360.