A novel minisatellite repeat expansion identified at FRA16B in a Japanese carrier.

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Previously, the allelic expansion of a 33-bp AT-rich minisatellite repeat has been reported to cause <i>FRA16B</i>, a distamycin A-inducible fragile site. Here, we identified a novel 35-bp minisatellite repeat at <i>FRA16B</i> in a Japanese carrier. The nucleotide sequence of the 35-bp minisatellite was highly AT-rich and nearly identical to the 33-bp one but with insertion of two nucleotides, thymine and adenine. The copy number of the AT-rich minisatellite was 21 in total in the carrier, while only a few copies of the 33-bp minisatellite were present in a non-carrier Japanese subject. These results suggest that the molecular mechanism involved in the allelic expansion of the minisatellite repeat in <i>FRA16B</i> recognizes both minisatellites, the 33-bp one and the 35-bp one, as an amplicon. These observations were different from the ones at folate-sensitive fragile sites, where the CCG triplet repeat was commonly involved in the allelic expansion. Although a slight reduction in AT content (95%>90%) in the region of minisatellite expansion in the carrier subject was observed, both AT-content and length of the highly AT-rich region seem to play important roles in the cytogenetic expression of the distamycin A-inducible fragile site. In another normal subject, without fragile site expression, allelic expansion involving the 33-bp minisatellite was observed, and the length of the AT-rich DNA region was increased up to ~1000 bp. Since the length of the AT-rich minisatellite region was increased up to ~1,100-bp in the carrier subject, the threshold length for the cytogenetic expression of the AT-rich DNA region may be between about 1,000-bp and 1,100-bp.<br>

収録刊行物

  • Genes & genetic systems

    Genes & genetic systems 75(3), 149-154, 2000

    The Genetics Society of Japan

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各種コード

  • NII論文ID(NAID)
    10004957446
  • NII書誌ID(NCID)
    AA11077421
  • 本文言語コード
    ENG
  • 資料種別
    ART
  • ISSN
    13417568
  • NDL 記事登録ID
    5475568
  • NDL 雑誌分類
    ZR1(科学技術--生物学)
  • NDL 請求記号
    Z53-W539
  • データ提供元
    CJP書誌  NDL  J-STAGE 
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