Abstract：
:Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19-36 repeats while SCA1 alleles contain 43-81 repeats. We now show that in 63% of paternal transmissions, an increase in repeat number is observed, whereas 69% of maternal transmissions showed no change or a decrease in repeat number. Sequence analysis of the repeat from 126 chromosomes reveals an interrupted repeat configuration in 98% of the unexpanded alleles but a contiguous repeat (CAG)n configuration in 30 expanded alleles from seven SCA1 families. This indicates that the repeat instability in SCA1 is more complex than a simple variation in repeat number and that the loss of an interruption predisposes the SCA1 (CAG)n to expansion.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Chung MY,Ranum LP,Duvick LA,Servadio A,Zoghbi HY,Orr HTdoi
10.1038/ng1193-254subject
Has Abstractpub_date
1993-11-01 00:00:00pages
254-8issue
3eissn
1061-4036issn
1546-1718journal_volume
5pub_type
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