Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan
复制标题
糖原脱支酶基因的异质突变导致日本 IIIa 型糖原累积病
DOI：
10.1007/s004399900194
复制
发表时间：
1999
期刊：
影响因子：
5.3
通讯作者：
Toshio Murase
中科院分区：
文献类型：
--
作者：
Minoru Okubo;A. Horinishi;Megumi Takeuchi;Yoshimi Suzuki;Nobuo Sakura;Yukihiro Hasegawa;Tohru Igarashi;Kiyoshi Goto;Hideki Tahara;S. Uchimoto;Kaoru Omichi;Hitoshi Kanno;Kiyoshi Hayasaka;Toshio Murase
Abstract. Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder caused by deficiency of the glycogen-debranching enzyme (AGL). Recent studies of the AGL gene have revealed the prevalent mutations in North African Jewish and Caucasian populations, but whether these common mutations are present in other ethnic groups remains unclear. We have investigated eight Japanese GSD IIIa patients from seven families and identified seven mutations, including one splicing mutation (IVS14+1G→T) previously reported by us, together with six novel ones: a nonsense mutation (L124X), a splice site mutation (IVS29–1G→C), a 1-bp deletion (587delC), a 2-bp deletion (4216–4217delAG), a 1-bp insertion (2072–2073insA), and a 3-bp insertion (4735–4736insTAT). The last mutation results in insertion of a tyrosine residue at a putative glycogen-binding site, and the rest are predicted to cause synthesis of truncated proteins lacking the glycogen-binding site at the carboxyl terminal. Thirteen novel polymorphisms have also been revealed in this study: three amino acid substitutions (R387Q, G1115R, and E1343 K), one silent point mutation (L298L), one nucleotide change in the 5'-noncoding region, and eight nucleotide changes in introns. Haplotype analysis with combinations of these polymorphic markers showed L124X, IVS14+1G→T, and 4216–4217delAG to be on different haplotypes. These results demonstrate the importance of the integrity of the carboxy terminal domain in the AGL protein and the molecular heterogeneity of GSD IIIa in Japan.
登录
查看更多内容
影响因子：
15.9
作者：
Shen, JJ;Bao, Y;Chen, YT
通讯作者：
Chen, YT
糖原脱支酶基因的多态性标记允许对 III 型糖原贮积病家族进行连锁分析。
影响因子：
4
作者：
Shen,J;Liu,HM;Bao,Y;Chen,YT
通讯作者：
Chen,YT
编码人肌糖原脱支酶的 cDNA 的分子克隆和核苷酸序列。
DOI：
--
发表时间：
1992
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Yang,BZ;Ding,JH;Enghild,JJ;Bao,Y;Chen,YT
通讯作者：
Chen,YT
影响因子：
3.5
作者：
Bao, Y;Yang, BZ;Chen, YT
通讯作者：
Chen, YT
影响因子：
4.4
作者：
Bao, Y;Dawson, TL;Chen, YT
通讯作者：
Chen, YT