Bgl II RFLP recognized by a human IRBP cDNA localized to chromosome 10.

SOURCE/DESCRIPTION: A 2184 bp cDNA (H.4 IRBP) encoding human interstitial retinol-binding protein (IRBP; Fong et al., 1984) isolated from a human retina cDNA library in XgtlO by screening with a bovine IRBP cDNA probe (B.23; Liou et al., 1986). POLYMORPHISM: Bgl II (AGATCT) identifies a 2-allele polymorphism with bands at 6.3 kb (A1) and 4.3 kb (A2). There is a strong invariant band at 2.5 kb. FREQUENCY: In 43 unrelated individuals (41 Caucasians, 2 Blacks) A1 6.3 kb 0.85 A2 4.3 kb 0.15 NOT POLYMORPHIC FOR: Hind III, Pvu II, Bcl I CHROMOSOMAL LOCALIZATION: Mapped to chromosome 10 using somatic cell hybrids. In situ hybridization suggests regional assignment near p1l.2 -* qll.2 with a secondary site of hybridization at q24 + 25. MENDELIAN INHERITANCE: Demonstrated in two 6-member families (see Fig.). PROBE AVAILABILITY: Available to collaborators. REFERENCES: Fong, S.-L. et al., J. Neurochem., 42:1667-1676 (1984). Liou, G.I. et al., Vision Research 26:1645-1654 (1986). ACKNOWLEDGEMENTS: Supported by the Retina Research Foundation of Houston, NIH/NEI, Knights Templar Eye Foundation, Inc., Research to Prevent Blindness. We thank Dr. Arthur Beaudet and Craig Rosenbloom for DNA samples.