Polymorphisms in the MLL breakpoint cluster region (BCR)
Identifieur interne : 000543 ( Main/Exploration ); précédent : 000542; suivant : 000544Polymorphisms in the MLL breakpoint cluster region (BCR)
Auteurs : Deborah R. Echlin-Bell [États-Unis] ; Lydia L. Smith [États-Unis] ; Loretta Li [États-Unis] ; Pamela L. Strissel [États-Unis] ; Reiner Strick [États-Unis] ; Vandana Gupta [États-Unis] ; Jhula Banerjee [États-Unis] ; Richard Larson [États-Unis] ; Mary V. Relling [États-Unis] ; Susan C. Raimondi [États-Unis] ; Yasuhide Hayashi [Japon] ; Tomohiko Taki [Japon] ; Nancy Zeleznik-Le [États-Unis] ; Janet D. Rowley [États-Unis]Source :
- Human Genetics [ 0340-6717 ] ; 2003-07-01.
Abstract
: The MLL gene is involved in many chromosomal translocations leading to both acute myeloid and lymphoid leukemia. Some patients treated for primary malignancies with chemotherapeutic agents that inhibit DNA topoisomerase II (topo II) develop treatment-related leukemia (t-AML) caused by MLL gene rearrangement. Whether these patients are unusually susceptible to anti-topo II drugs, or whether this is a random adverse event is unknown. To discover genetic polymorphisms that may predispose patients to t-AML development, we sequenced the 8.3-kb MLL breakpoint cluster region (BCR) from 22 patients who had been treated with topo II inhibitors and who developed t-AML and from 37 patients who did not, and from eight infants and 20 normal individuals. Four polymorphic sites within Alu repetitive elements were identified; three affected the length of poly-A tracts and one altered the size of a trinucleotide repeat. The three poly-A tract polymorphisms occurred with equal frequency in leukemic patients and controls and hence are not predictors of risk. The trinucleotide GAA repeat has three alleles: (GAA)4, (GAA)5, and (GAA)6. The (GAA)6 allele is very rare. The adult t-AML patients are almost exclusively (GAA)4/5 heterozygotes (83%), whereas the normal population is only 55% (GAA)4/5 heterozygotic and is represented equally by (GAA)4 and (GAA)5 homozygotes (20% each). Only certain trends could be established because of the small sample size of these leukemic groups. Whereas adult t-AML patients are more likely to be (GAA)4/5 heterozygotes, this is not statistically significant, and this polymorphism within the MLL BCR has only a suggestive association with t-AML development.
Url:
DOI: 10.1007/s00439-003-0936-2
Affiliations:
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Echlin-Bell</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, University of Chicago, 5841 S. Maryland Avenue, IL 60637, Chicago</wicri:regionArea><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Smith, Lydia L" sort="Smith, Lydia L" uniqKey="Smith L" first="Lydia L." last="Smith">Lydia L. Smith</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, University of Chicago, 5841 S. Maryland Avenue, IL 60637, Chicago</wicri:regionArea><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Li, Loretta" sort="Li, Loretta" uniqKey="Li L" first="Loretta" last="Li">Loretta Li</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, University of Chicago, 5841 S. Maryland Avenue, IL 60637, Chicago</wicri:regionArea><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Strissel, Pamela L" sort="Strissel, Pamela L" uniqKey="Strissel P" first="Pamela L." last="Strissel">Pamela L. Strissel</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, University of Chicago, 5841 S. Maryland Avenue, IL 60637, Chicago</wicri:regionArea><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Strick, Reiner" sort="Strick, Reiner" uniqKey="Strick R" first="Reiner" last="Strick">Reiner Strick</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, University of Chicago, 5841 S. Maryland Avenue, IL 60637, Chicago</wicri:regionArea><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Gupta, Vandana" sort="Gupta, Vandana" uniqKey="Gupta V" first="Vandana" last="Gupta">Vandana Gupta</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, University of Chicago, 5841 S. Maryland Avenue, IL 60637, Chicago</wicri:regionArea><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Banerjee, Jhula" sort="Banerjee, Jhula" uniqKey="Banerjee J" first="Jhula" last="Banerjee">Jhula Banerjee</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, University of Chicago, 5841 S. Maryland Avenue, IL 60637, Chicago</wicri:regionArea><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Larson, Richard" sort="Larson, Richard" uniqKey="Larson R" first="Richard" last="Larson">Richard Larson</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, University of Chicago, 5841 S. Maryland Avenue, IL 60637, Chicago</wicri:regionArea><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Relling, Mary V" sort="Relling, Mary V" uniqKey="Relling M" first="Mary V." last="Relling">Mary V. Relling</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>, St. Jude Children's Research Hospital, 332 N. Lauderdale Street, TN 38105, Memphis</wicri:regionArea><wicri:noRegion>Memphis</wicri:noRegion></affiliation></author><author><name sortKey="Raimondi, Susan C" sort="Raimondi, Susan C" uniqKey="Raimondi S" first="Susan C." last="Raimondi">Susan C. Raimondi</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>, St. Jude Children's Research Hospital, 332 N. Lauderdale Street, TN 38105, Memphis</wicri:regionArea><wicri:noRegion>Memphis</wicri:noRegion></affiliation></author><author><name sortKey="Hayashi, Yasuhide" sort="Hayashi, Yasuhide" uniqKey="Hayashi Y" first="Yasuhide" last="Hayashi">Yasuhide Hayashi</name><affiliation wicri:level="4"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, University of Tokyo, 113–8655, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Taki, Tomohiko" sort="Taki, Tomohiko" uniqKey="Taki T" first="Tomohiko" last="Taki">Tomohiko Taki</name><affiliation wicri:level="4"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, University of Tokyo, 113–8655, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName><orgName type="university">Université de Tokyo</orgName></affiliation></author><author><name sortKey="Zeleznik Le, Nancy" sort="Zeleznik Le, Nancy" uniqKey="Zeleznik Le N" first="Nancy" last="Zeleznik-Le">Nancy Zeleznik-Le</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>, Loyola University Medical Center, 2160 S. First Avenue, IL 60153, Maywood</wicri:regionArea><wicri:noRegion>Maywood</wicri:noRegion></affiliation></author><author><name sortKey="Rowley, Janet D" sort="Rowley, Janet D" uniqKey="Rowley J" first="Janet D." last="Rowley">Janet D. Rowley</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Hematology/Oncology, University of Chicago, 5841 S. Maryland Avenue, IL 60637, Chicago</wicri:regionArea><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Genetics</title><title level="j" type="abbrev">Hum Genet</title><idno type="ISSN">0340-6717</idno><idno type="eISSN">1432-1203</idno><imprint><publisher>Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><date type="published" when="2003-07-01">2003-07-01</date><biblScope unit="volume">113</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="80">80</biblScope><biblScope unit="page" to="91">91</biblScope></imprint><idno type="ISSN">0340-6717</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0340-6717</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">: The MLL gene is involved in many chromosomal translocations leading to both acute myeloid and lymphoid leukemia. Some patients treated for primary malignancies with chemotherapeutic agents that inhibit DNA topoisomerase II (topo II) develop treatment-related leukemia (t-AML) caused by MLL gene rearrangement. Whether these patients are unusually susceptible to anti-topo II drugs, or whether this is a random adverse event is unknown. To discover genetic polymorphisms that may predispose patients to t-AML development, we sequenced the 8.3-kb MLL breakpoint cluster region (BCR) from 22 patients who had been treated with topo II inhibitors and who developed t-AML and from 37 patients who did not, and from eight infants and 20 normal individuals. Four polymorphic sites within Alu repetitive elements were identified; three affected the length of poly-A tracts and one altered the size of a trinucleotide repeat. The three poly-A tract polymorphisms occurred with equal frequency in leukemic patients and controls and hence are not predictors of risk. The trinucleotide GAA repeat has three alleles: (GAA)4, (GAA)5, and (GAA)6. The (GAA)6 allele is very rare. The adult t-AML patients are almost exclusively (GAA)4/5 heterozygotes (83%), whereas the normal population is only 55% (GAA)4/5 heterozygotic and is represented equally by (GAA)4 and (GAA)5 homozygotes (20% each). Only certain trends could be established because of the small sample size of these leukemic groups. Whereas adult t-AML patients are more likely to be (GAA)4/5 heterozygotes, this is not statistically significant, and this polymorphism within the MLL BCR has only a suggestive association with t-AML development.</div></front></TEI><affiliations><list><country><li>Japon</li><li>États-Unis</li></country><region><li>Illinois</li><li>Région de Kantō</li></region><settlement><li>Chicago</li><li>Tokyo</li></settlement><orgName><li>Université de Tokyo</li></orgName></list><tree><country name="États-Unis"><region name="Illinois"><name sortKey="Echlin Bell, Deborah R" sort="Echlin Bell, Deborah R" uniqKey="Echlin Bell D" first="Deborah R." last="Echlin-Bell">Deborah R. Echlin-Bell</name></region><name sortKey="Banerjee, Jhula" sort="Banerjee, Jhula" uniqKey="Banerjee J" first="Jhula" last="Banerjee">Jhula Banerjee</name><name sortKey="Gupta, Vandana" sort="Gupta, Vandana" uniqKey="Gupta V" first="Vandana" last="Gupta">Vandana Gupta</name><name sortKey="Larson, Richard" sort="Larson, Richard" uniqKey="Larson R" first="Richard" last="Larson">Richard Larson</name><name sortKey="Li, Loretta" sort="Li, Loretta" uniqKey="Li L" first="Loretta" last="Li">Loretta Li</name><name sortKey="Raimondi, Susan C" sort="Raimondi, Susan C" uniqKey="Raimondi S" first="Susan C." last="Raimondi">Susan C. Raimondi</name><name sortKey="Relling, Mary V" sort="Relling, Mary V" uniqKey="Relling M" first="Mary V." last="Relling">Mary V. Relling</name><name sortKey="Rowley, Janet D" sort="Rowley, Janet D" uniqKey="Rowley J" first="Janet D." last="Rowley">Janet D. Rowley</name><name sortKey="Rowley, Janet D" sort="Rowley, Janet D" uniqKey="Rowley J" first="Janet D." last="Rowley">Janet D. Rowley</name><name sortKey="Smith, Lydia L" sort="Smith, Lydia L" uniqKey="Smith L" first="Lydia L." last="Smith">Lydia L. Smith</name><name sortKey="Strick, Reiner" sort="Strick, Reiner" uniqKey="Strick R" first="Reiner" last="Strick">Reiner Strick</name><name sortKey="Strissel, Pamela L" sort="Strissel, Pamela L" uniqKey="Strissel P" first="Pamela L." last="Strissel">Pamela L. Strissel</name><name sortKey="Zeleznik Le, Nancy" sort="Zeleznik Le, Nancy" uniqKey="Zeleznik Le N" first="Nancy" last="Zeleznik-Le">Nancy Zeleznik-Le</name></country><country name="Japon"><region name="Région de Kantō"><name sortKey="Hayashi, Yasuhide" sort="Hayashi, Yasuhide" uniqKey="Hayashi Y" first="Yasuhide" last="Hayashi">Yasuhide Hayashi</name></region><name sortKey="Taki, Tomohiko" sort="Taki, Tomohiko" uniqKey="Taki T" first="Tomohiko" last="Taki">Tomohiko Taki</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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