Abstract：
:Fragile X syndrome results from the expansion of a CGG repeat that is normally interrupted by occasional AGG triplets. Linkage disequilibrium suggests that certain normal haplotypes may contribute unequally to the pool of fragile X chromosomes. Sequence analysis of normal alleles demonstrates haplotype-specific variation of the cryptic nature of the repeat. Variation occurs principally at the 3' end of the repeat, suggesting stability differences between the leading and lagging strands of DNA replication. Normal alleles with greater than 24 perfect 3' CGG repeats appear more frequently on haplotypes overrepresented among fragile X chromosomes. Such alleles are found in 2% of normal chromosomes and could comprise the ancestral allelic pool from which fragile X chromosomes are derived. These data also may imply that equilibrium between certain predisposed alleles and fragile X expansions has not yet been attained, indicating ongoing evolutionary change at this locus.
journal_name
Celljournal_title
Cellauthors
Kunst CB,Warren STdoi
10.1016/0092-8674(94)90134-1subject
Has Abstractpub_date
1994-06-17 00:00:00pages
853-61issue
6eissn
0092-8674issn
1097-4172pii
0092-8674(94)90134-1journal_volume
77pub_type
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