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视网膜劈裂症与四个标记基因座之间的连锁关系。

Linkage relationship between retinoschisis and four marker loci.

作者信息

Gellert G, Peterson J, Krawczak M, Zoll B

机构信息

Institut für Humangenetik der Universität, Göttingen, Federal Republic of Germany.

出版信息

Hum Genet. 1988 Aug;79(4):382-4. doi: 10.1007/BF00282183.

DOI:10.1007/BF00282183
PMID:2900804
Abstract

The linkage relationship between the locus for juvenile retinoschisis (RS) and four X-chromosomal marker loci DXS9 (RC8), DXS16 (XUT23), DXS41 (99-6), and DXS43 (D2) has been studied in six families showing a history of this disease. Recombination with RS was found for all marker loci except DXS9. The maximum lod score is zeta = 2.66 for RS vs. DXS9 at a recombination fraction of theta = 0.0. Multipoint linkage analysis was performed and the locus order best supported by our data is: RS - DXS9 - DXS43 - DXS16 - DXS41.

摘要

在六个有青少年视网膜劈裂症（RS）病史的家族中，研究了青少年视网膜劈裂症（RS）基因座与四个X染色体标记基因座DXS9（RC8）、DXS16（XUT23）、DXS41（99 - 6）和DXS43（D2）之间的连锁关系。除DXS9外，在所有标记基因座上均发现了与RS的重组。在重组率θ = 0.0时，RS与DXS9的最大对数优势分数为ζ = 2.66。进行了多点连锁分析，我们的数据最支持的基因座顺序为：RS - DXS9 - DXS43 - DXS16 - DXS41。

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本文引用的文献

1
Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome.视网膜劈裂症、Xg血型以及来自X染色体短臂远端的一个克隆DNA序列之间的连锁关系。
Hum Genet. 1983;64(2):143-5. doi: 10.1007/BF00327111.
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Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
3
Easy calculations of lod scores and genetic risks on small computers.在小型计算机上轻松计算连锁分析计分和遗传风险。
J Med Genet. 1994 Dec;31(12):972-5. doi: 10.1136/jmg.31.12.972.
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Efficient DNA carrier detection in X linked juvenile retinoschisis.X连锁青少年视网膜劈裂症中高效的DNA载体检测
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Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes.X连锁青少年视网膜劈裂症与Xp22.1-p22.3探针的连锁关系。
Am J Hum Genet. 1990 Oct;47(4):616-21.
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Contribution to carrier detection and genetic counselling in X linked retinoschisis.对X连锁视网膜劈裂症携带者检测及遗传咨询的贡献
J Med Genet. 1991 Jun;28(6):383-8. doi: 10.1136/jmg.28.6.383.
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Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region.Xp22.3 - p21.2区域12个标记位点的基因定位。
Hum Genet. 1991 Apr;86(6):599-603. doi: 10.1007/BF00201548.
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Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.构建完整的人类X染色体连锁图谱：利用一组体细胞杂种对16个克隆的单拷贝DNA序列进行区域定位。
Am J Hum Genet. 1984 Mar;36(2):265-76.
5
Restriction fragment length polymorphisms at the human parathyroid hormone gene locus.人类甲状旁腺激素基因位点的限制性片段长度多态性
Hum Genet. 1984;67(4):428-31. doi: 10.1007/BF00291404.
6
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Hum Genet. 1987 Jan;75(1):32-40. doi: 10.1007/BF00273835.
7
Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci.构建一个富含人类X染色体的噬菌体文库，有助于对特定基因座进行分析。
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8
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9
Detection of specific sequences among DNA fragments separated by gel electrophoresis.在通过凝胶电泳分离的DNA片段中检测特定序列。
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Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.通过用DNA聚合酶I进行切口平移在体外将脱氧核糖核酸标记至高比活性。
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