The PML gene is linked to a megabase-scale insertion/deletion restriction fragment length polymorphism Journal Article
| Authors: | Goy, A.; Passalaris, T.; Xiao, Y. H.; Miller, W. H. Jr; Siegel, D. S.; Zelenetz, A. D. |
| Article Title: | The PML gene is linked to a megabase-scale insertion/deletion restriction fragment length polymorphism |
| Abstract: | The PML gene located on chromosome band 15q22 is involved with the RARα locus (17q21) in a balanced reciprocal translocation uniquely observed in acute promyelocytic leukemia. Physical mapping studies by pulsed-field gel electrophoresis revealed that the PML gene is flanked by two CpG islands that are separated by a variable distance in normal individuals. Several lines of evidence demonstrate that this is the consequence of a large insertion/deletion polymorphism linked to the PML locus: (1) overlapping fragments obtained with a variety of rare-cutting restriction enzymes demonstrated the same variability in distance between the flanking CpG islands; (2) mapping with restriction enzymes insensitive to CpG methylation confirmed that the findings were not a consequence of variable methylation of CpG dinucleotides; (3) the polymorphism followed a Mendelian inheritance pattern. This polymorphism is localized 3′ to the PML locus. There are five common alleles, described on the basis of BssHII fragments, ranging from 220 to 350 kb with increments of approximately 30 kb between alleles. Both heterozygous (61%) and homozygous (39%) patterns were observed in normal individuals. Megabase-scale insertion/deletion restriction fragment length polymorphisms are very rare and have been described initially in the context of multigene families. Such structures have been also reported as likely regions of genetic instability. High-resolution restriction mapping of this particular structure linked to the PML locus is underway. © 1995 Academic Press, Inc. |
| Keywords: | human cell; gene deletion; sequence deletion; comparative study; gene locus; alleles; tumor cells, cultured; transcription factors; gene mapping; leukemia, promyelocytic, acute; reference values; acute myeloblastic leukemia; gene insertion; repetitive sequences, nucleic acid; linkage (genetics); gene location; genetic polymorphism; electrophoresis, gel, pulsed-field; chromosomes, human, pair 17; chromosomes, human, pair 15; restriction fragment length polymorphism; polymorphism, restriction fragment length; receptors, retinoic acid; deoxyribonucleases, type ii site-specific; human; priority journal; article; support, non-u.s. gov't; support, u.s. gov't, p.h.s.; genes, structural; translocation (genetics) |
| Journal Title: | Genomics |
| Volume: | 26 |
| Issue: | 2 |
| ISSN: | 0888-7543 |
| Publisher: | Elsevier Inc. |
| Date Published: | 1995-03-20 |
| Start Page: | 327 |
| End Page: | 333 |
| Language: | English |
| DOI: | 10.1016/0888-7543(95)80217-a |
| PUBMED: | 7601459 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 28 August 2018 -- Source: Scopus |
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