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将伴有中性粒细胞减少和线粒体异常的X连锁心脏骨骼肌病（巴斯综合征）的基因座定位到Xq28。

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

作者信息

Bolhuis P A, Hensels G W, Hulsebos T J, Baas F, Barth P G

机构信息

Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.

出版信息

Am J Hum Genet. 1991 Mar;48(3):481-5.

PMID:1998334
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682968/
Abstract

X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria is clinically characterized by congenital dilated cardiomyopathy, skeletal myopathy, recurrent bacterial infections, and growth retardation. We analyzed linkage between the disease locus and X-chromosomal markers in a family with seven carriers, four patients, and eight unaffected sons of carriers. Highest lod scores obtained by two-point linkage analysis were 2.70 for St14.1 (DXS52, TaqI) at a recombination fraction of zero and 2.53 for cpX67 (DXS134) at a recombination fraction of zero. Multipoint linkage analysis resulted in a maximum lod score of 5.24 at the position of St35.691 (DXS305). The most distal recombination detected in this family was located between the markers II-10 (DXS466) and DX13 (DXS15). These data indicate the location of the mutated gene at Xq28.

摘要

伴有中性粒细胞减少和线粒体异常的X连锁型心肌骨骼肌病的临床特征为先天性扩张型心肌病、骨骼肌病、反复细菌感染和生长发育迟缓。我们在一个家族中分析了疾病位点与X染色体标记之间的连锁关系，该家族有7名携带者、4名患者以及8名携带者的未患病儿子。两点连锁分析获得的最高对数优势分数在重组率为零时，St14.1（DXS52，TaqI）为2.70，cpX67（DXS134）在重组率为零时为2.53。多点连锁分析在St35.691（DXS305）位置获得的最大对数优势分数为5.24。在这个家族中检测到的最远端重组位于标记II-10（DXS466）和DX13（DXS15）之间。这些数据表明突变基因位于Xq28。

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