日本法布里病患者的突变频率
Frequency of mutations in Japanese patients with Fabry disease.
作者信息
Kobayashi Masahisa, Ohashi Toya, Iizuka Sayoko, Kaneshiro Eiko, Higuchi Takashi, Eto Yoshikatsu, Ida Hiroyuki
机构信息
Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
出版信息
Mol Genet Metab Rep. 2014 Aug 2;1:283-287. doi: 10.1016/j.ymgmr.2014.07.001. eCollection 2014.
We examined alpha-galactosidase A (GLA) gene mutations in 74 Japanese families with Fabry disease (FD) to determine the frequency of mutations. In 5 of 74 families (6.8%), the probands had no positive family histories and were diagnosed as because their parents had no mutations in GLA gene. The parents of Fabry patients do not necessarily have mutations in GLA gene which is an important consideration in genetic counseling for FD.
我们检测了74个患有法布里病（FD）的日本家庭中的α-半乳糖苷酶A（GLA）基因突变，以确定突变频率。在74个家庭中的5个（6.8%）中，先证者没有阳性家族史，并且由于其父母的GLA基因没有突变而被诊断为此病。法布里病患者的父母不一定有GLA基因突变，这在法布里病的遗传咨询中是一个重要的考虑因素。
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