Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy

Journal Article · Mon Feb 01 04:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1087· OSTI ID:6660068

Mahadevan, M S ^[1]; Foitzik, M A ^[2]; Surh, L C; Korneluk, R G ^[3]

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1. Univ. of Ottawa (Canada)
2. Children's Hospital of Eastern Ontario, Ottawa (Canada)
3. Children's Hospital of Eastern Ontario, Ottawa (Canada) Univ. of Ottawa (Canada)

The mutation causing myotonic dystrophy has been identified as an unstable trinucleotide CRG repeat located in the 3[prime] untranslated region of a gene putatively encoding a serine-threonine protein kinase. The mutation has been reported to be in total linkage disequilibrium with an insertion/deletion polymorphism located within the kinase gene. To determine the nature of this polymorphism, we have sequenced this genomic fragment and have found that the sequence of this region consists of five consecutive Alu repeats. Further analysis suggests that the smaller of two alleles is actually due to a proposed deletion event that resulted in the loss of an equivalent of three Alu repeats. We have developed a PCR-based assay to detect this polymorphism, the closest, distal marker to the DM mutation. 12 refs., 2 figs.

• OSTI ID: 6660068
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 15:2; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
DETECTION
DISEASES
ENZYMES
GENE MUTATIONS
GENES
HEREDITARY DISEASES
MUSCLES
MUTATIONS
ORGANIC COMPOUNDS
PHOSPHORUS-GROUP TRANSFERASES
PHOSPHOTRANSFERASES
PROTEINS
RFLPS
TRANSFERASES