Abstract: A myeloma cell-line transformed with a vector including a gene coding for a eukariotic polypeptide and a non-immunolglobulin promoter such that expression occurs of the gene coding for the eukariotic polypeptide, directed by the non-immunoglobulin promoter. The promoter may be a viral promoter, such as an SV40 promoter, a Rous sarcoma virus long terminal repeat or a Moloney murine leukemia long terminal repeat, or a non-viral promoter such as the mouse metallothionein promoter. Rat and mouse host myeloma cell-lines such as the rat YB/2/3.0 Ag20 hybridoma, the mouse SP-20 Ag hybridoma and the mouse NSO hybridoma are employed. The production of tissue plasminogen activator (tPA) is exemplified.

Abstract: Specific mutations in the connexin-32 gene that are associated with X-linked Charcot-Marie-Tooth (CMT) disease are disclosed. Methods of diagnosing X-linked CMT disease are also disclosed. Methods include hybridization analysis, such as Southern or Northern analysis, which use hybridization of mutant connexin-32 nucleic acid probes to connexin-32 genes; direct mutation analysis by restriction digest; sequencing of the connexin-32 gene; hybridization of an allele-specific oligonucleotide with amplified genomic DNA; or identification of mutant connexin-32 proteins. Mutant connexin-32 nucleic acid probes are also disclosed. The mutant connexin-32 nucleic acid probes have a mutation in at least one of the following codons: 12, 26, 28, 44, 75, 86, 100, 103, 107, 124, 142, 154, 157, 160, 161, 172, 179, 181, 183, 185, 187, 198, 204, 205, 219, 230 and 235.