DNA deletions in mild and severe Becker muscular dystrophy

• Published in: Human genetics Vol. 75; no. 3; pp. 281 - 285
• Main Authors: HART, K. A, HODGSON, S, WALKER, A, COLE, C. G, JOHNSON, L, DUBOWITZ, V, BOBROW, M
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-03-1987; Berlin; New York, NY
• Subjects: Adolescent; Adult; Biological and medical sciences; Child; Chromosome Deletion; Diseases of striated muscles. Neuromuscular diseases; DNA - genetics; DNA Restriction Enzymes; Genetic Linkage; Genetic Markers; Humans; Male; Medical sciences; Muscular Dystrophies - genetics; Neurology; Nucleic Acid Hybridization; X Chromosome; Human; Deletion; Genetics; Nervous system diseases; DNA; Duchenne muscular dystrophy
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/BF00281075

The DNA of 33 patients diagnosed as suffering from Becker muscular dystrophy (BMD) has been probed with cloned DNA sequences from Xp21, known to reveal DNA deletions in patients suffering from the more severe Duchenne muscular dystrophy (DMD). Two BMD cases showed clear deletions. A third case gave aberrant band sizes, which further analysis showed to be caused by a small deletion. This suggests that deletions in DXS164 occur approximately as frequently in BMD as they do in DMD. Of the two cases showing large deletions, one is at the severe end of the Becker clinical spectrum, whilst the other is a classical Becker-type dystrophy. The fact that loci defined by probes commonly deleted in classical DMD patients are also deleted in BMD patients of varying severity is strong additional evidence that these disorders are allelic, and further justifies the use of probes with defined linkage relationships to DMD also being used for counselling in BMD families.