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The duplicated human embryonic alpha-like globin genes encode a 5' functional zeta (xi 2) gene and a highly homologous pseudogene (psi xi 1). We have identified chromosomes with a xi 2-xi 1 rather than a xi 2-psi xi 1 arrangement by genomic mapping and oligonucleotide analysis. The DNA sequence of a cloned downstream xi-like gene provides direct evidence for the conversion of a psi xi 1----xi 1 gene, by a xi 2 gene. We present data suggesting that this gene conversion, which removed the only identifiable inactivating mutation in the psi xi 1 gene, was an interchromosomal event. The xi 2-xi 1 arrangement is common in all eight populations studied representing a previously undescribed type of polymorphism between individuals. Stable mRNA transcripts from the converted gene are absent at 16-20 weeks of gestation when transcripts from the xi 2 gene are readily detectable.


Journal article



Publication Date





809 - 819


Alleles, Animals, Base Sequence, Chromosomes, Human, 16-18, Cloning, Molecular, DNA, DNA Restriction Enzymes, Female, Fetus, Gene Conversion, Genes, Genetic Linkage, Gestational Age, Globins, Humans, Hybrid Cells, Mice, Polymorphism, Genetic, Pregnancy, RNA, Messenger, Recombination, Genetic, Transcription, Genetic