Malo M S, Blanchard B J, Andresen J M, Srivastava K, Chen X N, Li X, Jabs E W, Korenberg J R, Ingram V M
Department of Biology, Massachusetts Institute of Technology, Cambridge.
Cytogenet Cell Genet. 1994;67(3):178-86. doi: 10.1159/000133818.
We have identified four putative human sodium channel gene sequences, 55 bp each, using the polymerase chain reaction (PCR) on total human placental DNA with primers specific for the cDNA sequence of the rat brain sodium channel I alpha (Scn1a) gene. One of these sequences was extended bidirectionally by genomic inverse-PCR to obtain a 1.6-kb fragment. Sequencing of this 1,556-bp fragment showed a 282-bp complete exon, which has 95% and 94% homology at the nucleotide and amino acid levels, respectively, with the rat Scn1a gene. We putatively assign this sequence as belonging to the gene coding the alpha-subunit of a human brain type I sodium channel (SCN1A). PCR on human x rodent somatic cell hybrids with primers derived from SCN1A localized this gene to chromosome 2. Fluorescence in situ hybridization to human metaphase chromosomes sublocalized the gene to chromosome band 2q24.
我们使用聚合酶链反应（PCR），以针对大鼠脑钠通道Iα（Scn1a）基因cDNA序列的特异性引物，对人胎盘总DNA进行扩增，从而鉴定出了4个假定的人类钠通道基因序列，每个序列长55 bp。其中一个序列通过基因组反向PCR进行双向延伸，获得了一个1.6 kb的片段。对这个1556 bp片段进行测序，结果显示有一个282 bp的完整外显子，该外显子在核苷酸水平和氨基酸水平上分别与大鼠Scn1a基因具有95%和94%的同源性。我们推测将此序列归属于编码人类脑I型钠通道（SCN1A）α亚基的基因。使用源自SCN1A的引物对人-啮齿动物体细胞杂种进行PCR，将该基因定位到了2号染色体上。对人类中期染色体进行荧光原位杂交，进一步将该基因定位到了2q24染色体带。
