17号染色体q25区域遗传性神经性肌萎缩（HNA）基因座的遗传精细定位

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.

作者信息

Meulemann J, Kuhlenbäumer G, Schirmacher A, Wehnert M, De Jonghe P, De Vriendt E, Young P, Airaksinen E, Pou-Serradell A, Prats J M, Ringelstein B, Stögbauer F, Van Broeckhoven C, Timmerman V

机构信息

Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born-Bunge Foundation, Department of Biochemistry, University of Antwerp, Antwerpen, Belgium.

出版信息

Eur J Hum Genet. 1999 Dec;7(8):920-7. doi: 10.1038/sj.ejhg.5200384.

DOI:10.1038/sj.ejhg.5200384

PMID:10602368

Abstract

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent focal neuropathy. HNA is characterised by episodes of painful brachial plexus neuropathy with muscle weakness and atrophy, as well as sensory disturbances. Single episodes are commonly preceded by non-specific infections, immunisations or parturition. Mild dysmorphic features and short stature are present in some HNA families, but absolute co-segregation with HNA has not been described. To refine the previously described HNA locus on chromosome 17q25, we performed a genetic linkage study in five HNA families with different geographic origins. Significant linkage was obtained with chromosome 17q24-q25 short tandem repeat (STR) markers in three HNA families and suggestive linkage was found in the other two HNA families. Analysis of the informative recombinations in affected individuals allowed us to reduce the HNA linkage interval to a candidate region of 3.5 cM.

摘要

遗传性神经性肌萎缩（HNA）是一种常染色体显性复发性局灶性神经病。HNA的特征是发作性臂丛神经病，伴有肌肉无力和萎缩以及感觉障碍。单次发作通常先有非特异性感染、免疫接种或分娩。一些HNA家族存在轻度畸形特征和身材矮小，但尚未描述与HNA的绝对共分离情况。为了细化先前描述的位于17号染色体q25上的HNA基因座，我们在五个来自不同地理区域的HNA家族中进行了一项基因连锁研究。在三个HNA家族中，与17号染色体q24 - q25短串联重复序列（STR）标记获得了显著连锁，在另外两个HNA家族中发现了提示性连锁。对受累个体中信息性重组进行分析，使我们能够将HNA连锁区间缩小至一个3.5厘摩的候选区域。