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X连锁肾性尿崩症基因定位于Xq28。

Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28.

作者信息

Kambouris M, Dlouhy S R, Trofatter J A, Conneally P M, Hodes M E

机构信息

Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46223.

出版信息

Am J Med Genet. 1988 Jan;29(1):239-46. doi: 10.1002/ajmg.1320290138.

Abstract

X-linked nephrogenic diabetes insipidus (NDI) was segregating in a large Indiana family. It was tested for linkage of the NDI gene to X-chromosome molecular markers. Maximum lod scores of 3.15 and 3.01 (theta = 0) obtained for the molecular markers F8A (F8C) and DXS15 (DX13) respectively, indicate that the NDI gene is located in Xq28. A lod score of 3.61 (theta = 0) was obtained with multipoint linkage analysis of F8A and DXS15.

摘要

X连锁肾性尿崩症(NDI)在印第安纳州的一个大家族中呈分离状态。对NDI基因与X染色体分子标记进行了连锁测试。分子标记F8A(F8C)和DXS15(DX13)分别获得了最大对数优势分数3.15和3.01(θ = 0),表明NDI基因位于Xq28。通过对F8A和DXS15进行多点连锁分析,获得了3.61(θ = 0)的对数优势分数。

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