Abstract:
:Using positional cloning strategies, we have identified a CTG triplet repeat that undergoes expansion in myotonic dystrophy patients. This sequence is highly variable in the normal population. PCR analysis of the interval containing this repeat indicates that unaffected individuals have been 5 and 27 copies. Myotonic dystrophy patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat containing segment up to several kilobase pairs. The CTG repeat is transcribed and is located in the 3' untranslated region of an mRNA that is expressed in tissues affected by myotonic dystrophy. This mRNA encodes a polypeptide that is a member of the protein kinase family.
journal_name
Celljournal_title
Cellauthors
Brook JD,McCurrach ME,Harley HG,Buckler AJ,Church D,Aburatani H,Hunter K,Stanton VP,Thirion JP,Hudson Tdoi
10.1016/0092-8674(92)90154-5subject
Has Abstract,Author List Incompletepub_date
1992-02-21 00:00:00pages
799-808issue
4eissn
0092-8674issn
1097-4172pii
0092-8674(92)90154-5journal_volume
68pub_type
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