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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。

相似文献

1
Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1.两个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。
Am J Hum Genet. 1990 Dec;47(6):1020-2.
2
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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A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B.一个患有严重B型血友病的家族中，因子IX基因潜在表皮生长因子（EGF）结构域的新生基因内缺失。
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Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX.由于凝血因子IX基因中的单个核苷酸缺失导致的B型血友病（凝血因子IX西雅图2型）。
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DNA sequence analysis of three inhibitor-positive hemophilia B patients without gross gene deletion: identification of four novel mutations in factor IX gene.三名无大片段基因缺失的抑制剂阳性B型血友病患者的DNA序列分析：凝血因子IX基因中四个新突变的鉴定
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10
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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A postulated mechanism for deletions with inversions.一种关于缺失合并倒位的假定机制。
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Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.III型胶原蛋白（COL3A1）等位基因中具有异常末端的多外显子缺失导致的亲本体细胞和生殖系嵌合现象，在杂合子后代中产生了IV型埃勒斯-当洛综合征。
Am J Hum Genet. 1993 Jul;53(1):62-70.
4
The rates and patterns of deletions in the human factor IX gene.人类凝血因子IX基因的缺失率及缺失模式。
Am J Hum Genet. 1994 Feb;54(2):201-13.
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Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.人类CD40L基因的组织：对X染色体连锁高IgM综合征分子缺陷及产前诊断的意义。
Proc Natl Acad Sci U S A. 1994 Mar 15;91(6):2110-4. doi: 10.1073/pnas.91.6.2110.
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Unequal homologous recombination of human DNA on a yeast artificial chromosome.酵母人工染色体上人类DNA的不等位同源重组
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7
Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site.凝血因子IX马德里2型：凝血因子IX基因中的一种缺失/插入突变，该突变消除了外显子IV-内含子d剪接位点处供体连接的序列。
Am J Hum Genet. 1992 Feb;50(2):434-7.

本文引用的文献

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Localization of the site of recombination in formation of the Lepore Boston globin gene.Lepore波士顿珠蛋白基因形成过程中重组位点的定位。
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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。
Mol Biol Med. 1988 Apr;5(2):95-106.
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Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.外显子-阿尔u重组从低密度脂蛋白受体基因中删除了5千个碱基对，在家族性高胆固醇血症中产生无效表型。
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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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Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).人凝血因子IX（抗血友病因子B）基因的核苷酸序列。
Biochemistry. 1985 Jul 2;24(14):3736-50. doi: 10.1021/bi00335a049.
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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。
Science. 1988 Jan 29;239(4839):487-91. doi: 10.1126/science.2448875.
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Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7. doi: 10.1073/pnas.74.12.5463.