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基于二维交叉的人类X染色体图谱作为图谱整合的模型。

A 2D crossover-based map of the human X chromosome as a model for map integration.

作者信息

Fain P R, Kort E N, Chance P F, Nguyen K, Redd D F, Econs M J, Barker D F

机构信息

Department of Medical Informatics, University of Utah, Salt Lake City 84108, USA.

出版信息

Nat Genet. 1995 Mar;9(3):261-6. doi: 10.1038/ng0395-261.

DOI:10.1038/ng0395-261
PMID:7773289
Abstract

We have constructed a two-dimensional map of 243 markers on the X chromosome. The average distance between markers ordered by two recombinants is 5.4 centiMorgans (cM), which is reduced to 3.2 cM using a less stringent criterion of one recombinant. Map resolution is enhanced by replacing the usual reference marker format with a 2D format, and the two-recombinant rule is more conservative than the lod 3.0 criterion for order. Taken together, crossover mapping and the 2D format produces maps with greater reliability and higher resolution than maps constructed using currently accepted standards. This first high-density crossover-based map of an entire human chromosome provides a model for integrating physical and genetic maps.

摘要

我们构建了一张X染色体上243个标记的二维图谱。通过两个重组体排序的标记之间的平均距离为5.4厘摩(cM),使用一个重组体的较宽松标准时该距离降至3.2 cM。通过用二维格式取代通常的参考标记格式可提高图谱分辨率,并且两个重组体规则比用于排序的对数优势比(lod)3.0标准更为保守。综合来看,交叉定位和二维格式所产生的图谱比使用当前公认标准构建的图谱具有更高的可靠性和分辨率。这第一张基于高密度交叉的整个人类染色体图谱为整合物理图谱和遗传图谱提供了一个模型。

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引用本文的文献

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Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.雷特综合征家系的连锁分析表明,在Xq28可能存在一个关键区域。
J Med Genet. 1998 Dec;35(12):997-1003. doi: 10.1136/jmg.35.12.997.
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Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.伴有痉挛性双侧瘫的智力迟钝的基因定位至X染色体的着丝粒周围区域:女性携带者的X染色体失活
J Med Genet. 1998 Apr;35(4):284-7. doi: 10.1136/jmg.35.4.284.
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Parental origin-dependent, male offspring-specific transmission-ratio distortion at loci on the human X chromosome.
人类X染色体上基因座存在亲代来源依赖性、雄性后代特异性的传递比率畸变。
Am J Hum Genet. 1998 Jun;62(6):1493-9. doi: 10.1086/301860.
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Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28.家族性偏态X染色体失活:一种与高自然流产率相关的分子性状定位于Xq28。
Am J Hum Genet. 1997 Jul;61(1):160-70. doi: 10.1086/513901.
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Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.一种常染色体隐性形式的少汗性外胚层发育不良的确定性证据,在临床上与更常见的X连锁疾病无法区分。
Am J Hum Genet. 1997 Jul;61(1):94-100. doi: 10.1086/513905.
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Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.弗里德综合征是一种独特的X连锁智力障碍综合征,定位于Xp22。
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