A de novo recombination in the ABO blood group gene and evidence for the occurrence of recombination products |
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Authors: | K Suzuki Misa Iwata Hiroko Tsuji Takeshi Takagi Akiyoshi Tamura Goichi Ishimoto Shigenori Ito Kiyoshi Matsui Tokiko Miyazaki |
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Institution: | (1) Department of Legal Medicine, Osaka Medical College, 2-7, Daigaku-machi, Takatsuki, Osaka, 569, Japan Tel.: +81-726-6415; Fax: +81-726-846515, JP;(2) Department of Legal Medicine, Mie University School of Medicine, 2-174, Edobashi, Tsu, Mie, 514, Japan, JP |
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Abstract: | We have encountered a paternity case where exclusion of the putative father was only observed in the ABO blood group (mother,
B; child, A1; putative father, O), among the many polymorphic markers tested, including DNA fingerprints and microsatellite
markers. Cloning a part of the ABO gene, PCR-amplified from the trio’s genomes, followed by sequencing the cloned fragments,
showed that one allele of the child had a hybrid nature, comprising exon 6 of the B allele and exon 7 of the O1 allele. Based
on the evidence that exon 7 is crucial for the sugar-nucleotide specificity of A1 and B transferases and that the O1 allele
is only specified by the 261G deletion in exon 6 of the consensus sequence of the A1 allele, we concluded that the hybrid
allele encodes a transferase with A1 specificity, resulting, presumably, from de novo recombination between the B and O1 alleles
of the mother during meiosis. Screening of random populations demonstrated the occurrence of four other hybrid alleles. Sequencing
of intron VI from the five hybrid alleles showed that the junctions of the hybrid alleles were located within intron VI, the
intron VI-exon 7 boundaries, or exon 7. Recombinational events seem to be partly involved in the genesis of sequence diversities
of the ABO gene.
Received: 25 October 1996 |
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