autosomal gene

Objective To explore the genetic pathogenesis of hypokalemic periodic paralysis ( HOKPP), an autosomal dominant disease by detecting gene mutation at related loci.

目的通过检测相关基因的突变位点来研究低钾性周期性麻痹（HOKPP）这一常染色体显性遗传疾病的遗传学病因。

Mutations in the cardiac sodium channel gene SCN5A also cause cardiac conduction disease and autosomal recessive sick sinus syndrome ( SSS).

心脏钠离子通道基因SCN5A的突变也可导致心脏传导疾病和常染色体隐性病态窦房结综合征（SSS）。

Objective To map the virulence gene for a family with coronary autosomal dominant congenital cataracts ( ADCC ).

目的初步定位具有花冠状表型的常染色体显性遗传性先天性白内障一家系的致病基因.

Objective: To detect gene mutations associated with autosomal dominant congenital stationary night blindness ( ADCSNB) in a large Chinese family.

目的：检测中国一常染色体显性先天性静止性夜盲（ADCSNB）大家系相关基因的致病性突变位点及此病临床表型特征。

Neurofibromatosis type 1 ( NF1) is a common, autosomal-dominant disorder caused by mutations in the NF1 tumor suppressor gene.

神经纤维瘤病（NF1）是常见的常染色体显性遗传性疾病，国外报道，其发病率高达1：3000。这种疾病是由于NF1基因的突变而发生的。