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两个14碱基对同源序列之间的重组作为因子IX西雅图1中基因缺失的机制。

Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1.

作者信息

Chen S H, Scott C R

机构信息

Department of Pediatrics, University of Washington, Seattle 98195.

出版信息

Am J Hum Genet. 1990 Dec;47(6):1020-2.

PMID:2239965
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683893/
Abstract

Factor IXSeattle 1 is a 10-kb intragenic deletion identified in a family that has hemophilia B. By sequencing across the site of the deletion, we discovered at the deletion junction a 13-bp sequence (5' . . . TAGAA-GTTCACTT . . . 3') that was homologous to two 14-bp sequences 10 kb apart in introns D and F of the normal factor IX gene. The presence of these homologous sequences in two different regions of the normal gene allows us to propose that genetic recombination has occurred between the sequences, resulting in the gene deletion. The precise recombination site was able to be localized to one of 5 bp (5' . . . AGTTC . . . 3') in the middle of the homologous sequences. The exact length of the deletion is 10,000 bp.

摘要

因子IX西雅图1是在一个患有B型血友病的家族中鉴定出的一个10千碱基对的基因内缺失。通过对缺失位点进行测序，我们在缺失连接处发现了一个13碱基对的序列（5'...TAGAA-GTTCACTT...3'），它与正常因子IX基因内含子D和F中相距10千碱基对的两个14碱基对序列同源。正常基因两个不同区域中这些同源序列的存在使我们能够提出，序列之间发生了基因重组，导致了基因缺失。精确的重组位点能够定位到同源序列中间5个碱基对（5'...AGTTC...3'）中的一个。缺失的精确长度为10,000碱基对。

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Partial deletion by illegitimate recombination of the factor IX gene in a haemophilia B family with two inhibitor patients.在一个有两名抑制物患者的B型血友病家族中，因异常重组导致因子IX基因部分缺失。
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An intragenic deletion of the factor IX gene in a family with hemophilia B.一个患有B型血友病的家族中，凝血因子IX基因的基因内缺失。
J Clin Invest. 1985 Dec;76(6):2161-4. doi: 10.1172/JCI112222.
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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.使用热稳定DNA聚合酶进行引物引导的DNA酶促扩增。
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