LOCALIZATION OF A PUTATIVE HUMAN BRAIN SODIUM-CHANNEL GENE (SCN1A) TO CHROMOSOME BAND 2Q24

被引：23

作者：

MALO, MS

BLANCHARD, BJ

ANDRESEN, JM

SRIVASTAVA, K

CHEN, XN

LI, X

JABS, EW

KORENBERG, JR

INGRAM, VM

机构：

[1] MIT,DEPT BIOL,CAMBRIDGE,MA 02139

[2] UNIV CALIF LOS ANGELES,CEDARS SINAI MED CTR,CTR MED GENET BIRTH DEFECTS,LOS ANGELES,CA 90048

[3] UNIV CALIF LOS ANGELES,CEDARS SINAI MED CTR,AHMANSON DEPT PEDIAT,LOS ANGELES,CA 90048

[4] JOHNS HOPKINS UNIV,CTR MED GENET,BALTIMORE,MD

来源：

CYTOGENETICS AND CELL GENETICS | 1994年 / 67卷 / 03期

关键词：

D O I：

10.1159/000133818

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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 Ia (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 a-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.

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页码：178 / 186

页数：9

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