Molecular genetics of Tay-Sachs disease in Japan.
Molecular genetics of Tay-Sachs disease in Japan.
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日本泰萨克斯病的分子遗传学。
DOI：
10.1007/bf00711597
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发表时间：
1994
影响因子：
4.2
通讯作者：
Suzuki,K
中科院分区：
文献类型：
--
作者：
Tanaka,A;Sakazaki,H;Murakami,H;Isshiki,G;Suzuki,K
材料和方法：对9例婴儿泰-萨克斯病患者进行研究，这些患者至少在一个等位基因上没有共同的主要突变。他们来自没有血缘关系的家庭，他们的父母都没有血缘关系。皮肤成纤维细胞在37℃、5%CO2、含10%胎牛血清的Eagle‘s最低基本培养液中培养，淋巴母细胞在含10%胎牛血清的RPMI1640培养液中培养。
MATERIALS AND METHODSPatients: Nine patients with infantile Tay-Sachs disease who do not have the common major mutation at least in one allele were studied. They were from unrelated families and none of their parents are consanguineous. Skin fibroblasts were cultured in Eagle's minimal essential medium with 10% fetal bovine serum at 37 C in 5% CO2, and cultured lymphoblasts were maintained in RPMI 1640 medium with 10% fetal bovine serum under the same conditions.