PHYSICAL AND GENETIC-MAPPING OF A HUMAN APICAL EPITHELIAL NA+/H+ EXCHANGER (NHE3) ISOFORM TO CHROMOSOME-5P15.3
PHYSICAL AND GENETIC-MAPPING OF A HUMAN APICAL EPITHELIAL NA+/H+ EXCHANGER (NHE3) ISOFORM TO CHROMOSOME-5P15.3
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DOI：
10.1006/geno.1993.1122
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发表时间：
1993-03-01
期刊：
影响因子：
4.4
通讯作者：
JABS, EW
中科院分区：
文献类型：
--
作者：
BRANT, SR;BERNSTEIN, M;JABS, EW
已鉴定出Na+/H+交换异构体的基因家族。兔NHE 3的特征表明，它是顶端上皮Na+/H+交换亚型，负责肠和肾上皮细胞中的跨上皮、电中性Na+吸收。我们先前已经从人肾皮质文库中分离出部分人NHE 3 cDNA，克隆HKC-3。使用HKC-3探测人/啮齿动物体细胞杂交定位板，将人NHE 3基因物理定位到染色体5p15.3的远端部分。Southern分析的EcoRI消化的人基因组DNA的CEPH家系探测与HKC-3检测到三个多态性位点，共含有9个等位基因，分离在孟德尔的方式。在无关个体中观察到的NHE 3基因座杂合性为71%。NHE 3和其他已知定位于5 p15的标记之间的连锁分析证实了NHE 3定位于染色体5p15.3，使得NHE 3成为在5号染色体短臂上鉴定的最端粒基因。
A gene family of Na+/H+exchanger isoforms has been identified. Characterization of rabbit NHE3 suggests that it is the apical epithelial Na+/H+exchanger isoform responsible for transepithelial, electroneutral Na+absorption in intestinal and renal epithelial cells. We have previously isolated from a human kidney cortex library a partial human NHE3 cDNA, clone HKC-3. Using HKC-3 to probe human/rodent somatic cell hybrid mapping panels, the human NHE3 gene was physically mapped to the distal portion of chromosome 5p15.3. Southern analysis ofEcoRI-digested human genomic DNAs of CEPH pedigrees probed with HKC-3 detected three polymorphic sites containing a total of nine alleles that segregate in a Mendelian fashion. The observed heterozygosity for the NHE3 locus in unrelated individuals was 71%. Linkage analysis between NHE3 and other markers known to map at 5p15 confirmed the localization of NHE3 to chromosome 5p15.3, making NHE3 the most telomeric gene identified on the short arm of chromosome 5.