该病属常染色体隐性遗传,与X-染色体关联,所以,母亲是基因携带者的男性表现为发病。
The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
由于常染色体上出现突变基因而导致的疾病。
A disease caused by the presence of two recessive mutant genes on an autosome.
方法:筛选出患长qt综合征1型的家庭成员,并鉴定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。
Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.
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