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肾病的注释染色体图谱。

Annotated chromosome maps for renal disease.

作者信息

McKnight Amy Jayne, O'Donoghue Donal, Peter Maxwell A

机构信息

Nephrology Research Group, Queen's University of Belfast, United Kingdom.

出版信息

Hum Mutat. 2009 Mar;30(3):314-20. doi: 10.1002/humu.20885.

DOI:10.1002/humu.20885
PMID:19085929
Abstract

A combination of linkage analyses and association studies are currently employed to promote the identification of genetic factors contributing to inherited renal disease. We have standardized and merged complex genetic data from disparate sources, creating unique chromosomal maps to enhance genetic epidemiological investigations. This database and novel renal maps effectively summarize genomic regions of suggested linkage, association, or chromosomal abnormalities implicated in renal disease. Chromosomal regions associated with potential intermediate clinical phenotypes have been integrated, adding support for particular genomic intervals. More than 500 reports from medical databases, published scientific literature, and the World Wide Web were interrogated for relevant renal-related information. Chromosomal regions highlighted for prioritized investigation of renal complications include 3q13-26, 6q22-27, 10p11-15, 16p11-13, and 18q22. Combined genetic and physical maps are effective tools to organize genetic data for complex diseases. These renal chromosome maps provide insights into renal phenotype-genotype relationships and act as a template for future genetic investigations into complex renal diseases. New data from individual researchers and/or future publications can be readily incorporated to this resource via a user-friendly web-form accessed from the website: www.qub.ac.uk/neph-res/CORGI/index.php.

摘要

目前采用连锁分析和关联研究相结合的方法来促进对遗传性肾病相关遗传因素的识别。我们对来自不同来源的复杂遗传数据进行了标准化和合并,创建了独特的染色体图谱以加强遗传流行病学研究。这个数据库和新颖的肾脏图谱有效地总结了与肾病相关的连锁、关联或染色体异常的基因组区域。与潜在中间临床表型相关的染色体区域已被整合,为特定的基因组区间提供了支持。我们查阅了医学数据库、已发表的科学文献以及万维网的500多篇报告,以获取相关的肾脏相关信息。重点对肾脏并发症进行优先研究的染色体区域包括3q13 - 26、6q22 - 27、10p11 - 15、16p11 - 13和18q22。综合遗传图谱和物理图谱是组织复杂疾病遗传数据的有效工具。这些肾脏染色体图谱为了解肾脏表型 - 基因型关系提供了见解,并为未来对复杂肾脏疾病的遗传研究提供了模板。来自个别研究人员的新数据和/或未来的出版物可以通过从网站www.qub.ac.uk/neph - res/CORGI/index.php访问的用户友好型网络表单轻松纳入此资源。

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