Carrier detection by microsatellite analysis of Duchenne/Becker muscular dystrophy in Hungarian families

Annals of Human Genetics

Volumn 62, Issue 6, 1998, Pages 511-520

  Bachrati, C Z ^a   Somodi, Z ^a   Endreffy, E ^b   Kalmar T ^a   Rasko I ^a  

^a INSTITUTE OF EXPERIMENTAL MEDICINE   (Hungary)

^b UNIVERSITY OF SZEGED   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; MICROSATELLITE DNA;

ALLELE; ARTICLE; BECKER MUSCULAR DYSTROPHY; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; HUNGARY; INTRON; MAJOR CLINICAL STUDY; MUTATION RATE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION;

ALLELES; DYSTROPHIN; FEMALE; HETEROZYGOTE; HUMANS; HUNGARY; INFANT, NEWBORN; MALE; MICROSATELLITE REPEATS; MUSCULAR DYSTROPHIES; PEDIGREE; PRENATAL DIAGNOSIS;

EID: 0032419344     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-1809.1998.6260511.x     Document Type: Article

References (10)

1. BARKHAUS, P. E. & GILCHRIST, J. M. (1989). Duchenne muscular dystrophy manifesting carriers. Arch. Neurol. 46, G73-G75.
2. BEGGS, A. H., KOENIG, M., BOYCE, F. M. & KUNKEL, L. M. (1990). Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum. Genet. 86, 45-48.
3. BRINKMANN, B., JUNGE, A., MEYER, E. & WIEGAND, P. (1998). Population genetic diversity in relation to microsatellite heterogeneity. Hum. Mutat. 11, 135-144.
4. CHAMBERLAIN, J. S., GIBBS, R. A., RANIER, J. E. & CASKEY, C. T. (1990). Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In PCR protocols. A guide to methods and applications (eds. M. A. Innis, D. H. Gelfand, J. J. Sninsky & T. J. White), pp. 272-281. San Diego, California: Academic Press, Inc.
5. CLAUSTRES, M., KJELLBERG, P., DESGEORGES, M., BELLET, H. & DEMAILLE, J. (1990). Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy. Hum. Genet. 86, 241-243.
6. CLEMENS, P. R., FENWICK, R. G., CHAMBERLAIN, J. S., GIBBS, R. A., DE ANDRADE, M., CHAKRABORTY, R. & CASKEY, C. T. (1991). Carrier detection and prenatal diagnosis in Duchenne and Beeker muscular dystrophy families, using dinueleotide repeat polymorqhisms. Am. J. Hum. Genet. 49, 951-900.
7. DEN DUNNEN, J. T., BAKKER, E., BRETELER, E. G., PEARSON, P. L. & VAN OMMEN, G. J. (1987). Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature. 329, 640-642.
8. HENNEKAM, R. C., VEENEMA, H., BAKKER, E., JENNEKENS, F. G., TE VELDE, E. R. & DE PATER, J. (1989). A male carrier for Duchenne muscular dystrophy. Am. J. Hum. Genet. 44, 591
9. HU, N. Y., RAY, P. N., MURPHY, E. G., THOMPSON, M. W. & WORTON, R. G. (1900). Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype/genotype correlation. Am. J. Hum. Genet. 46, 682-695.
10. KOWALEWSKI, S., ROTTHAUWE, H. W., MOLBERT, E. & MUMENTHALER, M. (1966). Female carriers of muscular dystrophy. Lancet. 1, 1216-1217.