IDENTIFICATION OF THE HUMAN BETA-A2 CRYSTALLIN GENE (CRYBA2) - LOCALIZATION OF THE GENE ON HUMAN-CHROMOSOME-2 AND OF THE HOMOLOGOUS GENE ONMOUSE CHROMOSOME-1

By using primers synthesized on the basis of the bovine beta A2 crysta llin gene sequence, we amplified exons 5 and 6 of the human gene (CRYB A2). CRYBA2 was assigned to human chromosome 2 by concordance analysis in human x rodent somatic cell hybrids using the amplified PCR produc ts as probe. Regional localization to 2q34-q36 was established by hybr idizing the CRYBA2 probe to microcell and radiation hybrids containing defined fragments of chromosome 2 as the only human contribution. The CRYBA2 probe was also used to localize, by interspecific backcross ma pping, the mouse gene (Cryba2) to the central portion of chromosome 1 in a region of known human chromosome 2 homology. Finally, we demonstr ate that in both species the beta A2 crystallin gene is linked but sep arable from the gamma A crystallin gene. The beta A2 crystallin gene i s a candidate gene for human and mouse hereditary cataract. (C) 1995 A cademic Press, Inc.