
Translocation is one of the most frequently occurring human chromosomal aberrations. The constitutional t(11;22)(q23;q11), which is the only known recurrent non-Robertsonian translocation, represents a good model for studying translocations in humans. Here we demonstrate polymorphisms of the palindromic sequence at the t(11;22) breakpoint that affect the frequency of de novo translocations in sperm from normal males. A typical allele consists of a perfect palindrome, producing ~10-5 de novo t(11;22) translocations. Alleles with an asymmetric center do not form the t(11;22). Our data show the importance of genome sequence on chromosomal rearrangements, a class of human mutation that is thought to be random.
Male, Heterozygote, Genotype, Homozygote, Genetic Variation, AT Rich Sequence, Spermatozoa, Translocation, Genetic, Gene Frequency, Humans, Alleles, Repetitive Sequences, Nucleic Acid, Sequence Deletion
Male, Heterozygote, Genotype, Homozygote, Genetic Variation, AT Rich Sequence, Spermatozoa, Translocation, Genetic, Gene Frequency, Humans, Alleles, Repetitive Sequences, Nucleic Acid, Sequence Deletion
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