A fine-structure deletion map of human chromosome 11p: analysis of J1 series hybrids.

摘要: Deletion analysis offers a powerful alternative to linkage and karyotypic approaches for human chromosome mapping. A panel of deletion hybrids has been derived by mutagenizing J1, hamster cell line that stably retains 11 as its only DNA, selecting loss MIC1,a surface antigen encoded gene in band 11p13. unique, self-consistent map was constructed analyzing the pattern marker segregation 22 derivative cells lines; these carry overlapping deletions 11p13, but selectively retain segment near 11p telomere. The orders 35 breakpoints 36 genetic markers, including 3 antigens, 2 isozymes, 12 cloned genes, 19 anonymous DNA probes. span entire short arm, dividing it into more than 20 segments define set reagents can be used rapidly locate any newly identified on 11p, with greatest resolution region surrounding MIC1.The approach we demonstrate applied mammalian chromosome. To test order, examined somatic from five patients, whose reciprocal translocations bisect 11p13; include two associated familial aniridia acute T-cell leukemia. In each patient, markers segregate telomeric centromeric groups predicted map. These data (AN2)and recurrent leukemia breakpoint (TCL2)in sequence, opposite sides MIC1.To provide additional support, have characterized dosage patient Beckwith-Wiedemann syndrome an 11p15-11pter duplication. Our findings suggest following order: TEL-(HRAS1, MER2, CTSD, TH/INS/IGF2, H19, D11S32)-(RRM1, D11S1, D11S25, D11S26)-D11S12-(HBBC, D11S30)-D11S20-(PTH, CALC)-(LDHA, SAA, TRPH, D11S18, D11S21)-D11S31-D11S17-HBVS1-(FSHB, D11S16)-AN2-MIC1-TCL2-ΔJ-CAT-MIC4-D11S9-D11S14-ACP2-(D11S33, 14L)-CEN.We show distribution repetitive elements low-order interspersed repeat A36Fc.Finally, evidence allelic event genome underlies stability J1. provides basis position hereditary disease loci distinguish recessive mutations different forms cancer and, since many genes mapped other species, study evolution conserved syntenic group.