PMC:6218809 / 15426-16969 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6218809","sourcedb":"PMC","sourceid":"6218809","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6218809","text":"Fiber-FISH showed that the reference haplotype generates signals consistent with the genome reference sequence (Figure 1A). Because of the high sequence identity between the tandemly repeated glycophorin regions, there is extensive cross-hybridization of probes that map to the GYPB repeat with the GYPE and GYPA repeats. The GYPE repeat can be distinguished by hybridization of a small GYPE-repeat-specific PCR product, and the GYPA repeat can be identified by a gap in the green fosmid probe signal, caused by 16 kb of unique sequence in the GYPA repeat. Also, the overlap of the distal end of the blue fosmid probe with the proximal end of the GYPE repeat means that a small amount of blue signal at the distal end of the GYPB and GYPE repeats is detected, confirming repeat length and orientation. We identified DNA fibers showing an arrangement completely consistent with the DUP4 model proposed previously (Figure 1B).\nFigure 1 Fiber FISH Analysis of the DUP4 Heterozygote Sample HG02554\n(A) An example DNA fiber from the reference haplotype. The position and label color of the fosmid probes is indicated above the fiber on a representation of the human reference genome, and the interpretation of the FISH signals shown below the fiber.\n(B) An example DNA fiber from the DUP4a haplotype. The Leffler model of the DUP4 haplotype is indicated above the fiber. The interpretation of the FISH signals shown below the fiber.\n(C) An example DNA fiber from the DUP4b haplotype. The interpretation of the FISH signals is shown below the fiber.","divisions":[{"label":"label","span":{"begin":925,"end":933}},{"label":"p","span":{"begin":934,"end":993}},{"label":"p","span":{"begin":994,"end":1244}},{"label":"p","span":{"begin":1245,"end":1427}}],"tracks":[]}