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A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2.

作者信息

Kehrer-Sawatzki H, Schwickardt T, Assum G, Rocchi M, Krone W

机构信息

Abteilung Humangenetik, Universität Ulm, Germany.

出版信息

Hum Genet. 1997 Oct;100(5-6):595-600. doi: 10.1007/s004390050559.

DOI:10.1007/s004390050559
PMID:9341878
Abstract

Sequences related to the neurofibromatosis type 1 (NF1) gene have been identified on several human chromosomes. In the centromeric region of chromosomes 14 and 15, two NF1 pseudogenes have been described. Sequence comparison between NF1-related exons amplified from two yeast artificial chromosome clones hybridizing to chromosomal region 15q11.2 and published NF1-related sequences localized at 15q11.2 suggested that a third NF1 pseudogene resides in this chromosomal region. The previous localization of an NF1-related locus to the telomeric part of chromosome 15 could not be confirmed by us. Our findings further support pericentromeric spreading of partial NF1 gene copies at chromosome 15q11.2 during evolution.

摘要

相似文献

1
A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2.
Hum Genet. 1997 Oct;100(5-6):595-600. doi: 10.1007/s004390050559.
2
NF1-related locus on chromosome 15.
Genomics. 1992 Aug;13(4):1316-8. doi: 10.1016/0888-7543(92)90055-w.
3
Identification and mapping of type 1 neurofibromatosis (NF1) homologous loci.
Cytogenet Cell Genet. 1996;73(4):334-40. doi: 10.1159/000134370.
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Genomic analysis of a NF1-related pseudogene on human chromosome 21.
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Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22.2号、14号和22号染色体上高度相关的1型神经纤维瘤病(NF1)假基因的传播机制。
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Identification and characterization of NF1-related loci on human chromosomes 22, 14 and 2.
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Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.15号染色体着丝粒周围区域的组织:在15q近端重复的患者中,至少有四个部分基因拷贝被扩增。
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A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene.一个包含1型神经纤维瘤病基因的酵母人工染色体重叠群。
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Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases.通过聚合酶链反应检测I型神经纤维瘤病(NF1)同源序列:对遗传疾病诊断和筛查的意义
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引用本文的文献

1
The chAB4 and NF1-related long-range multisequence DNA families are contiguous in the centromeric heterochromatin of several human chromosomes.chAB4和NF1相关的长程多序列DNA家族在几个人类染色体的着丝粒异染色质中是相邻的。
Nucleic Acids Res. 2002 Jul 1;30(13):2899-905. doi: 10.1093/nar/gkf382.
2
Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.15号染色体着丝粒周围区域的组织:在15q近端重复的患者中,至少有四个部分基因拷贝被扩增。
J Med Genet. 2002 Mar;39(3):170-7. doi: 10.1136/jmg.39.3.170.
3
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
整个NF1基因的微小病变突变谱并不能解释其高突变性,但指向了GAP相关结构域上游的一个功能域。
Am J Hum Genet. 2000 Mar;66(3):790-818. doi: 10.1086/302809.