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遗传性神经性肌萎缩(家族性臂丛神经病)基因定位于17号染色体长臂远端。

Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q.

作者信息

Pellegrino J E, Rebbeck T R, Brown M J, Bird T D, Chance P F

机构信息

Division of Neurology, Children's Hospital of Philadelphia, PA 19104, USA.

出版信息

Neurology. 1996 Apr;46(4):1128-32. doi: 10.1212/wnl.46.4.1128.

Abstract

Hereditary neuralgic amyotrophy with predilection for the brachial plexus (HNA) is an autosomal dominant disorder associated with recurrent, episodic, painful brachial neuropathies. Mildly dysmorphic facial features, including hypotelorism, long nasal bridge, and upslanting palpebral fissures, are present in affected persons in some pedigrees with HNA. To determine the chromosomal location of the HNA gene, we carried out genetic linkage studies with polymerase chain reaction-based DNA markers in two large pedigrees. Linkage to markers from the distal long arm of chromosome 17 was established.

摘要

遗传性臂丛神经痛性肌萎缩症(HNA)是一种常染色体显性疾病,与复发性、发作性、疼痛性臂丛神经病变相关。在一些患有HNA的家系中,受影响者存在轻度的面部畸形特征,包括眼距过窄、鼻梁长以及睑裂向上倾斜。为了确定HNA基因的染色体定位,我们使用基于聚合酶链反应的DNA标记物,在两个大型家系中进行了遗传连锁研究。确定了与17号染色体长臂远端的标记物存在连锁关系。

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