先天性角化不良：另外三个家族显示与Xq28位点存在连锁关系。

Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.

作者信息

Arngrimsson R, Dokal I, Luzzatto L, Connor J M

机构信息

Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.

出版信息

J Med Genet. 1993 Jul;30(7):618-9. doi: 10.1136/jmg.30.7.618.

DOI:10.1136/jmg.30.7.618

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016470/

Abstract

Dyskeratosis congenita (DC) is a rare inherited disorder with most families being of the X linked recessive type. We describe three families which show linkage to the marker DXS52 on Xq28. The combined maximum lod score was 2.00 at zero recombination. This is further evidence that the X linked DC gene is located at Xq28 and brings the reported maximum lod score for DC and DXS52 to 5.33 at zero recombination fraction, with a supporting recombination fraction interval of 0.00-0.10.

摘要

先天性角化不良（DC）是一种罕见的遗传性疾病，大多数家族为X连锁隐性类型。我们描述了三个与Xq28上的标记DXS52连锁的家族。在零重组时，联合最大对数优势分数为2.00。这进一步证明X连锁DC基因位于Xq28，并使报道的DC与DXS52在零重组分数时的最大对数优势分数达到5.33，支持的重组分数区间为0.00 - 0.10。

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