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Literature DB >> 1355068

DNA analysis in Turkish Duchenne/Becker muscular dystrophy families.

E Battaloğlu¹, M Telatar, F Deymeer, P Serdaroğlu, F Kuseyri, C Ozdemir, M Apak, A Tolun.

Abstract

The molecular genetics of Duchenne/Becker muscular dystrophy was investigated in 81 affected Turkish families. Deletions were detected by multiplex polymerase chain reaction assays and cDNA Southern analyses. The distribution of the deletions along the gene and their correlation to clinical phenotype were different from the studies reported on other populations. Moreover, DNA polymorphisms in mothers were determined using 8 DNA probes and three CA repeat sequences, and a high degree of informativeness was observed.

Entities: Disease

Mesh：

Year: 1992 PMID： 1355068 DOI： 10.1007/bf00221954

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

24 in total

1. Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.

Authors: C Oudet; R Heilig; A Hanauer; J L Mandel
Journal: Am J Hum Genet Date: 1991-08 Impact factor: 11.025

2. A polymorphic CACA repeat in the 3' untranslated region of dystrophin.

Authors: A H Beggs; L M Kunkel
Journal: Nucleic Acids Res Date: 1990-04-11 Impact factor: 16.971

3. A simple salting out procedure for extracting DNA from human nucleated cells.

Authors: S A Miller; D D Dykes; H F Polesky
Journal: Nucleic Acids Res Date: 1988-02-11 Impact factor: 16.971

4. Becker muscular dystrophy: correlation of deletion type with clinical severity.

Authors: A M Norman; N S Thomas; H M Kingston; P S Harper
Journal: J Med Genet Date: 1990-04 Impact factor: 6.318

5. Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.

Authors: S Liechti-Gallati; M Koenig; L M Kunkel; D Frey; E Boltshauser; V Schneider; S Braga; H Moser
Journal: Hum Genet Date: 1989-03 Impact factor: 4.132

6. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors: M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal: Cell Date: 1987-07-31 Impact factor: 41.582

DNA analysis in Turkish Duchenne/Becker muscular dystrophy families.

1. Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.

2. A polymorphic CACA repeat in the 3' untranslated region of dystrophin.

3. A simple salting out procedure for extracting DNA from human nucleated cells.

4. Becker muscular dystrophy: correlation of deletion type with clinical severity.

5. Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.

6. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

7. Gene deletions in X-linked muscular dystrophy.

8. Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene.

9. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.

10. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

1. Patterns of dystrophin gene deletion in Egyptian Duchenne/Becker muscular dystrophy patients.