Deletion errors generated during replication of CAG repeats

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Deletion errors generated during replication of CAG repeats.

Triplet repeat sequence instability is associated with hereditary neurological diseases and with certain types of cancer. Here we study one form of this instability, deletion of triplet repeats during replication of template (CAG)(n)sequences by DNA polymerases. To monitor loss of triplet codons, we inserted (CAG)(9)and (CAG)(17)repeats into the lacZ sequence in M13mp2 and changed one repeat to...

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O-42: Expansion of CAG Repeats in theSpinocerebellar Ataxia Type 1 (SCA1) Gene inIdiopathic Oligozoospermia Patients

Background: The lengths of CAG repeats in two spinocerebellar ataxia genes, SCA1 and SCA3, were analyzed to determine whether such repeats exist in higher numbers in infertile males. Materials and Methods: Blood samples were collected from healthy controls, oligozoospermia patients, and azoospermia patients. DNA fragments containing target CAG repeats were amplified by PCR with template DNA pur...

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In Vitro Expansion of CAG, CAA, and Mixed CAG/CAA Repeats

Polyglutamine diseases, including Huntington's disease and a number of spinocerebellar ataxias, are caused by expanded CAG repeats that are located in translated sequences of individual, functionally-unrelated genes. Only mutant proteins containing polyglutamine expansions have long been thought to be pathogenic, but recent evidence has implicated mutant transcripts containing long CAG repeats ...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 1999

ISSN: 0305-1048,1362-4962

DOI: 10.1093/nar/27.17.3481