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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。

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene.

作者信息

Marchuk D A, Tavakkol R, Wallace M R, Brownstein B H, Taillon-Miller P, Fong C T, Legius E, Andersen L B, Glover T W, Collins F S

机构信息

Department of Human Genetics, University of Michigan, Ann Arbor 48109.

出版信息

Genomics. 1992 Jul;13(3):672-80. doi: 10.1016/0888-7543(92)90140-n.

DOI:10.1016/0888-7543(92)90140-n
PMID:1639394
Abstract

The yeast artificial chromosome (YAC) system (Burke et al., 1987, Science 236: 806-812) allows the direct cloning of large regions of the genome. A YAC contig map of approximately 700 kb encompassing the region surrounding the type 1 neurofibromatosis (NF1) locus on 17q11.2 has been constructed. A single YAC containing the entire NF1 locus has been constructed by homologous recombination in yeast. In the process of contig construction a novel method of YAC end rescue has been developed by YAC circularization in yeast and plasmid rescue in bacteria. YACs containing homology to the NF1 region but mapping to another chromosome have also been discovered. Sequences of portions of the homologous locus indicate that this other locus is a nonprocessed pseudogene.

摘要

酵母人工染色体(YAC)系统(Burke等人,1987年,《科学》236:806 - 812)允许直接克隆基因组的大片段区域。已经构建了一个约700 kb的YAC重叠群图谱,该图谱涵盖了17q11.2上1型神经纤维瘤病(NF1)基因座周围的区域。通过酵母中的同源重组构建了一个包含整个NF1基因座的单一YAC。在重叠群构建过程中,通过酵母中的YAC环化和细菌中的质粒拯救开发了一种新的YAC末端拯救方法。还发现了与NF1区域具有同源性但定位到另一条染色体上的YAC。同源基因座部分的序列表明,这个其他基因座是一个未加工的假基因。

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引用本文的文献

1
A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.一名散发型1型神经纤维瘤病(NF1)患者出现细胞遗传学缺失,即del(17)(q11.22q21.1),该患者伴有畸形和发育迟缓。
J Med Genet. 1996 Feb;33(2):148-52. doi: 10.1136/jmg.33.2.148.
2
Molecular genetics of neurofibromatosis type 1 (NF1).1型神经纤维瘤病(NF1)的分子遗传学
J Med Genet. 1996 Jan;33(1):2-17. doi: 10.1136/jmg.33.1.2.
3
Island rescue PCR: a rapid and efficient method for isolating transcribed sequences from yeast artificial chromosomes and cosmids.
岛式拯救PCR:一种从酵母人工染色体和黏粒中分离转录序列的快速高效方法。
Proc Natl Acad Sci U S A. 1994 Jun 7;91(12):5377-81. doi: 10.1073/pnas.91.12.5377.
4
Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.跨越神经纤维瘤病1基因的缺失:5例患者的鉴定与表型分析
Am J Hum Genet. 1994 Mar;54(3):424-36.
5
A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level.
Hum Genet. 1995 Jul;96(1):131-2. doi: 10.1007/BF00214202.