PMID- 12032590 OWN - NLM STAT- MEDLINE DCOM- 20020722 LR - 20061115 IS - 1434-5161 (Print) IS - 1434-5161 (Linking) VI - 47 IP - 5 DP - 2002 TI - Allelic structures at hypervariable minisatellite B6.7 in Japanese show population specificity. PG - 232-8 AB - Human minisatellite B6.7 shows extensive allele length and structural variability in north Europeans. We analysed this locus in the Japanese population. Allele size distributions showed that Japanese retain extensive allele length variability but have significantly smaller alleles compared with north Europeans. In contrast, there is very little variation in flanking DNA, with only one single-nucleotide polymorphism (SNP) near the minisatellite. Ninety-two Japanese alleles were further characterised by minisatellite variant repeat mapping by polymerase chain reaction (MVR-PCR). These alleles showed a wide variety of internal MVR structures, despite their relative shortness, with most alleles observed only once in the sample. The true heterozygosity is estimated at 99.95%, with well in excess of 2000 different alleles existing in the Japanese population. Dot matrix analysis showed that groups of related alleles sharing structural motifs could be identified within Japanese and in north Europeans, and that these groups are population specific with no examples of significant similarity between any Japanese and north European alleles. Minisatellite B6.7 therefore shows huge allele variability and fast repeat turnover in Japanese as well as north European populations, and provides novel lineage markers for exploring very recent events in human population history. FAU - Mizukoshi, Tsunenori AU - Mizukoshi T AD - Department of Legal Medicine, Sapporo Medical University School of Medicine, South 1 West 17, Chuo-ku, Sapporo 060-8556, Japan. tm13@pop01.odn.ne.jp FAU - Tamaki, Keiji AU - Tamaki K FAU - Azumi, Jun-ichi AU - Azumi J FAU - Matsumoto, Hiroshi AU - Matsumoto H FAU - Imai, Kohzoh AU - Imai K FAU - Jeffreys, Alec J AU - Jeffreys AJ LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - J Hum Genet JT - Journal of human genetics JID - 9808008 RN - 0 (DNA Primers) RN - 9007-49-2 (DNA) SB - IM MH - Alleles MH - Amino Acid Sequence MH - Chromosome Mapping MH - DNA/metabolism MH - DNA Primers/chemistry MH - Haplotypes MH - Humans MH - Japan MH - Minisatellite Repeats/*genetics MH - Molecular Sequence Data MH - Polymerase Chain Reaction MH - Repetitive Sequences, Nucleic Acid/*genetics MH - Sensitivity and Specificity MH - Sequence Homology, Amino Acid EDAT- 2002/05/29 10:00 MHDA- 2002/07/23 10:01 CRDT- 2002/05/29 10:00 PHST- 2002/05/29 10:00 [pubmed] PHST- 2002/07/23 10:01 [medline] PHST- 2002/05/29 10:00 [entrez] AID - 10.1007/s100380200031 [doi] PST - ppublish SO - J Hum Genet. 2002;47(5):232-8. doi: 10.1007/s100380200031.