Localization of the beta-globin gene to 11p15 by in situ hybridization: utilization of chromosome 11 rearrangements.

Chromosome preparations from four subjects, one normal 46,XY male and three patients with different rearrangements of chromosome 11: 46,XX,del(11)(p11.2----p15.1), 46,XY,inv(11)(p13q24.2), and 46,XY,rec(11)inv(11)(p13q24.2) pat, were utilized for in situ hybridization studies with a tritium-labeled cDNA probe containing a beta-globin insert. Using the hybridization technique described by Harper and Saunders (1981), there were 1-2 grains over each labeled metaphase. Of 360 cells scored, 88 were labeled over chromosome 11, band p15 (24%). Approximately half of the chromosome 11s labeled from the abnormal patients were the del(11) or inv(11). These results exclude the beta-globin locus from 11p11----p14, since these bands were not present in the deleted 11, and assign it to 11p15. This is in agreement with the recent exclusion data of de Martinville and Francke (1984) and Junien (1984), and suggestive assignment data of Morton et al. (1984).