MOLECULAR-CLONING AND PHYSICAL AND GENETIC-MAPPING OF THE HUMAN ANION-EXCHANGER ISOFORM-3 (SLC2C) GENE TO CHROMOSOME-2Q36

A human clone corresponding to the gene encoding anion exchanger isofo rm 3 (AE3) (approved gene symbol SLC2C) has been isolated and partiall y sequenced. Oligonucleotide primers based on this sequence were used in a polymerase chain reaction to specifically amplify a segment of th e human gene from a panel of human-rodent somatic cell hybrids, allowi ng the assignment of AE3 to chromosome 2. To map AE3 more precisely to a cytogenetic band on chromosome 2, the AE3 cosmid was used as a prob e in fluorescence in situ hybridization to human metaphase chromosomes . Fractional length measurements were made, and AE3 mapped at high res olution to the cytogenetic band 2q36. A polymorphic dinucleotide (GT/C A)(n) repeat marker was developed from sequences in the AE3 cosmid and typed on a subset of the CEPH families. Multipoint linkage analysis p laced the AE3 gene between D2S128 and D2S126 on a genetic map of chrom osome 2, corroborating the chromosomal localization of AE3 obtained by physical mapping methods. (C) 1994 Academic Press, Inc.