Screening 25 dystrophin gene exons for deletions in Arab children with Duchenne muscular dystrophy

Human Heredity

Volumn 48, Issue 2, 1998, Pages 61-66

  Haider, M Z ^a   Bastaki, L ^c   Habib, Y ^b   Moosa, A ^a,b  

^a KUWAIT UNIVERSITY   (Kuwait)

^b MUBARAK AL KABEER HOSPITAL   (Kuwait)

^c Kuwait Medical Genetics Centre   (Kuwait)

Author keywords

Deletion; Duchenne muscular dystrophy; Dystrophin; Exon; Polymerase chain reaction

Indexed keywords

DYSTROPHIN;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE DELETION; GENE FREQUENCY; GENETIC SCREENING; HUMAN; HUMAN CELL; MALE; POLYMERASE CHAIN REACTION; POPULATION GENETICS;

ARABS; CHILD; CHILD, PRESCHOOL; DYSTROPHIN; EXONS; GENE DELETION; GENETIC SCREENING; HUMANS; INFANT; MALE; MUSCULAR DYSTROPHIES;

EID: 0031885739     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022783     Document Type: Article

References (28)

1. Worton RG, Thompson MW: Genetics of Duchenne muscular dystrophy. Annu Rev Genet 1988;22: 610-629.
2. Kunkel LM, Beggs AH, Hoffman EP: Molecular genetics of Duchenne and Becker muscular dystrophy: Emphasis on improved diagnosis. Clin Chem 1989;35:B21-B24.
3. Prior TW: Genetic analysis of the Duchenne muscular dystrophy gene. Arch Pathol Lab Med 1991;115: 984-990.
4. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-511.
5. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT: Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988;16:11141-11156.
6. Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT: Multiplex PCR for the diagnosis of Duchenne muscular dystrophy: in Innis MA, Gelford DH, Sninsky JJ, White TJ (eds): PCR Protocols: A guide to methods and applications. New York, Academic Press, 1990, pp 272-281.
7. Beggs AH, Koenig M, Boyce FM, Kunkel LM: Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;86:45-48.
8. Covone AE, Caroli F, Romeo G: Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three multiplex PCR. Am J Hum Genet 1992;51:675-677.
9. Miller G, Wessel H: Diagnosis of dystrophinopathies: Review for the clinician. Pediatr Neurol 1992;9:3-9.
10. Emery AEH: Duchenne muscular dystrophy, ed 2. New York, Oxford University Press, 1988.
11. Sambrook J, Fritsch T, Maniatis T: Molecular Cloning: A Laboratory Manual. New York, Cold Spring Harbor Laboratory, 1989.
12. Liechti-Gallati S, Koenig M, Kunkel LM, Frey D, Botshauser E, Schneider V, Braga S, Moser H: Molecular deletion patterns in Duchenne and Becker type muscular dystrophy. Hum Genet 1989;81:343-348.
13. Simard LR, Gingras F, Delvoye N, Vanasse M, Melancon SB, Labuda D: Deletions in the dystrophin gene: Analysis of Duchenne and Becker muscular dystrophy patients in Quebec. Hum Genet 1992;89:419-424.
14. Hodgson S, Hart K, Abbs S, Heckmatt J, Rodillo E, Bobrow M, Dubowitz V: Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. J Med Genet 1989;26:682-693.
15. Imoto N, Arinami T, Hamono K, Matsumura K, Yamada H, Hagaguchi H, Takito H: Topographic pattern of rearrangement of the dystrophin gene in Japanese Duchenne muscular dystrophy. Hum Genet 1993;92:533-536.
16. Soong BW, Tsai TF, Su CH, Kao KP, Hsiao KJ, Su TS: DNA polymorphisms and deletion analysis of the Duchenne muscular dystrophy gene in the Chinese. Am J Med Genet 1991;89:419-424.
17. Mutirangura A, Norapucsunton T, Srivuthana S, et al: Multiplex PCR to detect the dystrophin gene deletion in Thai patients. J Med Assoc Thai 1995;78:460-465.
18. Lai PS, Tay JSH, Low PS, Lee WL, Koh GAS, Gan GC: Deletion analysis of DMD/BMD children in Singapore using multiplex PCR techniques. J Trop Pediatr 1992;38: 224-227.
19. Bartaloglu E, Telatar M, Deymeer F, Serdaroglu P, Kuseyri F, Ozdemir C, Apak M, Tolun A: DNA analysis in Turkish Duchenne/Becker muscular dystrophy families. Hum Genet 1992;89:635-639.
20. Kuseyri GN, Topalogulu H, Yuksel-Apak M, Kirdar B: Screening of deletions and RFLP analysis in Turkish DMD/BMD families by PCR. Clin Genet 1993;43:261-266.
21. Florentin L, Mavrou A, Kekou K, Metaxotou C: Deletion patterns of Duchenne and Backer muscular dystrophies in Greece. J Med Genet 1995,32:48-51.
22. Cutingeo CM, Padilla C, Takenaka Y, Yamasaki Y, Matsu M, Nishio H: More deletions in the 5′ region than in the central region of the dystrophin gene were identified among Filipino Duchenne and Becker muscular dystrophy patients. Am J Med Genet 1995;59:266-267.
23. Shomrat R, Gluck E, Legum C, Shiloh Y: Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients. Am J Med Genet 1994;49:369-373.
24. Speer A, Kraft U, Grade K, Coutelle C Wulff K, Wehnert M, Herrmann FH, Kadasi L, Kunert E, Muller U, Foster C, WolfC, Szibor R: Deletion analysis of DMD/BMD families from German Democratic Republic and selected regions of Czechoslovakia and Hungary, J Med Genet 1990;27:679-682.
25. Coral-Vazquez R, Arenas D, Cisneros B, Penaloza L, Kofman S, Salamanca F, Montanez C: Analysis of dystrophin gene deletions in patients from Mexican population with Duchenne/Becker muscular dystrophy. Arch Med Res 1993;24: 1-6.
26. Kitoh Y, Matsuo M, Nishio H, Takumi T, Nakajima T, Masumura T, Koga J, Nakamura H: Amplification often deletion rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy. Am J Med Genet 1992;42:453-457.
27. Blonden L, Grooscholten P, Den Dunnen J, et al: Breakpoints in the 200 kb deletion prone P20 region of the DMD gene are widely spread. Genomics 1991;10:631-639.
28. Oudet C, Hanauer A, Clemens P, Caskey CT, Mandel J-H: Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet 1992;1:599-603.