Movement Disorders (revue)

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Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

Identifieur interne : 001C92 ( PascalFrancis/Corpus ); précédent : 001C91; suivant : 001C93

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

Auteurs : Juliane Winkelmann ; Peter Lichtner ; Benno Pütz ; Claudia Trenkwalder ; Stephanie Hauk ; Thomas Meitinger ; Tim Strom ; Bertram Muller-Myhsok

Source :

RBID : Pascal:06-0135490

Descripteurs français

English descriptors

Abstract

Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q = 0.25, f0 = 0.005, f1 = 0.005, f2 = 0.8; chromosome 14: q = 0.003, f0 = 0.005, f1 = f2 = 0.95; chromosome 9: q = 0.001, f0 = 0.005, f1 = f2 = 0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

pA  
A01 01  1    @0 0885-3185
A03   1    @0 Mov. disord.
A05       @2 21
A06       @2 1
A08 01  1  ENG  @1 Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome
A11 01  1    @1 WINKELMANN (Juliane)
A11 02  1    @1 LICHTNER (Peter)
A11 03  1    @1 PÜTZ (Benno)
A11 04  1    @1 TRENKWALDER (Claudia)
A11 05  1    @1 HAUK (Stephanie)
A11 06  1    @1 MEITINGER (Thomas)
A11 07  1    @1 STROM (Tim)
A11 08  1    @1 MULLER-MYHSOK (Bertram)
A14 01      @1 Institute of Human Genetics, GSF-National Research Center for Environment and Health @2 Munich @3 DEU @Z 1 aut. @Z 2 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut.
A14 02      @1 Max Planck Institute of Psychiatry @2 Munich @3 DEU @Z 1 aut. @Z 3 aut. @Z 8 aut.
A14 03      @1 Paracelsius-Elena Klinik @2 Kassel @3 DEU @Z 4 aut.
A20       @1 28-33
A21       @1 2006
A23 01      @0 ENG
A43 01      @1 INIST @2 20953 @5 354000133169150040
A44       @0 0000 @1 © 2006 INIST-CNRS. All rights reserved.
A45       @0 27 ref.
A47 01  1    @0 06-0135490
A60       @1 P
A61       @0 A
A64 01  1    @0 Movement disorders
A66 01      @0 USA
C01 01    ENG  @0 Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q = 0.25, f0 = 0.005, f1 = 0.005, f2 = 0.8; chromosome 14: q = 0.003, f0 = 0.005, f1 = f2 = 0.95; chromosome 9: q = 0.001, f0 = 0.005, f1 = f2 = 0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.
C02 01  X    @0 002B17
C02 02  X    @0 002B17D
C02 03  X    @0 002B17G
C03 01  X  FRE  @0 Système nerveux pathologie @5 01
C03 01  X  ENG  @0 Nervous system diseases @5 01
C03 01  X  SPA  @0 Sistema nervioso patología @5 01
C03 02  X  FRE  @0 Impatience membre inférieur syndrome @5 02
C03 02  X  ENG  @0 Restless legs syndrome @5 02
C03 02  X  SPA  @0 Acroparestesia nocturna @5 02
C03 03  X  FRE  @0 Locus @5 09
C03 03  X  ENG  @0 Locus @5 09
C03 03  X  SPA  @0 Locus @5 09
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C03 04  X  ENG  @0 Heterogeneity @5 10
C03 04  X  SPA  @0 Heterogeneidad @5 10
C03 05  X  FRE  @0 Liaison génétique @5 11
C03 05  X  ENG  @0 Genetic linkage @5 11
C03 05  X  SPA  @0 Ligamiento genético @5 11
C03 06  X  FRE  @0 Sommeil @5 12
C03 06  X  ENG  @0 Sleep @5 12
C03 06  X  SPA  @0 Sueño @5 12
C07 01  X  FRE  @0 Trouble neurologique @5 37
C07 01  X  ENG  @0 Neurological disorder @5 37
C07 01  X  SPA  @0 Trastorno neurológico @5 37
C07 02  X  FRE  @0 Trouble sensibilité @5 38
C07 02  X  ENG  @0 Sensitivity disorder @5 38
C07 02  X  SPA  @0 Trastorno sensibilidad @5 38
C07 03  X  FRE  @0 Cycle veille sommeil @5 39
C07 03  X  ENG  @0 Sleep wake cycle @5 39
C07 03  X  SPA  @0 Ciclo sueño vigilia @5 39
N21       @1 086
N44 01      @1 OTO
N82       @1 OTO

Format Inist (serveur)

NO : PASCAL 06-0135490 INIST
ET : Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome
AU : WINKELMANN (Juliane); LICHTNER (Peter); PÜTZ (Benno); TRENKWALDER (Claudia); HAUK (Stephanie); MEITINGER (Thomas); STROM (Tim); MULLER-MYHSOK (Bertram)
AF : Institute of Human Genetics, GSF-National Research Center for Environment and Health/Munich/Allemagne (1 aut., 2 aut., 5 aut., 6 aut., 7 aut.); Max Planck Institute of Psychiatry/Munich/Allemagne (1 aut., 3 aut., 8 aut.); Paracelsius-Elena Klinik/Kassel/Allemagne (4 aut.)
DT : Publication en série; Niveau analytique
SO : Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 1; Pp. 28-33; Bibl. 27 ref.
LA : Anglais
EA : Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q = 0.25, f0 = 0.005, f1 = 0.005, f2 = 0.8; chromosome 14: q = 0.003, f0 = 0.005, f1 = f2 = 0.95; chromosome 9: q = 0.001, f0 = 0.005, f1 = f2 = 0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.
CC : 002B17; 002B17D; 002B17G
FD : Système nerveux pathologie; Impatience membre inférieur syndrome; Locus; Hétérogénéité; Liaison génétique; Sommeil
FG : Trouble neurologique; Trouble sensibilité; Cycle veille sommeil
ED : Nervous system diseases; Restless legs syndrome; Locus; Heterogeneity; Genetic linkage; Sleep
EG : Neurological disorder; Sensitivity disorder; Sleep wake cycle
SD : Sistema nervioso patología; Acroparestesia nocturna; Locus; Heterogeneidad; Ligamiento genético; Sueño
LO : INIST-20953.354000133169150040
ID : 06-0135490

Links to Exploration step

Pascal:06-0135490

Le document en format XML

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<div type="abstract" xml:lang="en">Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q = 0.25, f
<sub>0</sub>
= 0.005, f
<sub>1</sub>
= 0.005, f
<sub>2</sub>
= 0.8; chromosome 14: q = 0.003, f
<sub>0</sub>
= 0.005, f
<sub>1</sub>
= f
<sub>2</sub>
= 0.95; chromosome 9: q = 0.001, f
<sub>0</sub>
= 0.005, f
<sub>1</sub>
= f
<sub>2</sub>
= 0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.</div>
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</fA11>
<fA11 i1="06" i2="1">
<s1>MEITINGER (Thomas)</s1>
</fA11>
<fA11 i1="07" i2="1">
<s1>STROM (Tim)</s1>
</fA11>
<fA11 i1="08" i2="1">
<s1>MULLER-MYHSOK (Bertram)</s1>
</fA11>
<fA14 i1="01">
<s1>Institute of Human Genetics, GSF-National Research Center for Environment and Health</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="02">
<s1>Max Planck Institute of Psychiatry</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="03">
<s1>Paracelsius-Elena Klinik</s1>
<s2>Kassel</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA20>
<s1>28-33</s1>
</fA20>
<fA21>
<s1>2006</s1>
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<s0>ENG</s0>
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<s1>INIST</s1>
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<s5>354000133169150040</s5>
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<s0>0000</s0>
<s1>© 2006 INIST-CNRS. All rights reserved.</s1>
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<s1>P</s1>
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</fA66>
<fC01 i1="01" l="ENG">
<s0>Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q = 0.25, f
<sub>0</sub>
= 0.005, f
<sub>1</sub>
= 0.005, f
<sub>2</sub>
= 0.8; chromosome 14: q = 0.003, f
<sub>0</sub>
= 0.005, f
<sub>1</sub>
= f
<sub>2</sub>
= 0.95; chromosome 9: q = 0.001, f
<sub>0</sub>
= 0.005, f
<sub>1</sub>
= f
<sub>2</sub>
= 0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.</s0>
</fC01>
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<s0>002B17</s0>
</fC02>
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<s0>002B17D</s0>
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</fC02>
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<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG">
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</fC03>
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<s5>01</s5>
</fC03>
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<s0>Impatience membre inférieur syndrome</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Restless legs syndrome</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Acroparestesia nocturna</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE">
<s0>Locus</s0>
<s5>09</s5>
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<fC03 i1="03" i2="X" l="ENG">
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<s5>09</s5>
</fC03>
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<s5>09</s5>
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<s0>Hétérogénéité</s0>
<s5>10</s5>
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<s0>Heterogeneity</s0>
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</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Heterogeneidad</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE">
<s0>Liaison génétique</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Genetic linkage</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Ligamiento genético</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE">
<s0>Sommeil</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG">
<s0>Sleep</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA">
<s0>Sueño</s0>
<s5>12</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Trouble neurologique</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Neurological disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Trastorno neurológico</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Trouble sensibilité</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Sensitivity disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Trastorno sensibilidad</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE">
<s0>Cycle veille sommeil</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG">
<s0>Sleep wake cycle</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA">
<s0>Ciclo sueño vigilia</s0>
<s5>39</s5>
</fC07>
<fN21>
<s1>086</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
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<server>
<NO>PASCAL 06-0135490 INIST</NO>
<ET>Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome</ET>
<AU>WINKELMANN (Juliane); LICHTNER (Peter); PÜTZ (Benno); TRENKWALDER (Claudia); HAUK (Stephanie); MEITINGER (Thomas); STROM (Tim); MULLER-MYHSOK (Bertram)</AU>
<AF>Institute of Human Genetics, GSF-National Research Center for Environment and Health/Munich/Allemagne (1 aut., 2 aut., 5 aut., 6 aut., 7 aut.); Max Planck Institute of Psychiatry/Munich/Allemagne (1 aut., 3 aut., 8 aut.); Paracelsius-Elena Klinik/Kassel/Allemagne (4 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 1; Pp. 28-33; Bibl. 27 ref.</SO>
<LA>Anglais</LA>
<EA>Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q = 0.25, f
<sub>0</sub>
= 0.005, f
<sub>1</sub>
= 0.005, f
<sub>2</sub>
= 0.8; chromosome 14: q = 0.003, f
<sub>0</sub>
= 0.005, f
<sub>1</sub>
= f
<sub>2</sub>
= 0.95; chromosome 9: q = 0.001, f
<sub>0</sub>
= 0.005, f
<sub>1</sub>
= f
<sub>2</sub>
= 0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.</EA>
<CC>002B17; 002B17D; 002B17G</CC>
<FD>Système nerveux pathologie; Impatience membre inférieur syndrome; Locus; Hétérogénéité; Liaison génétique; Sommeil</FD>
<FG>Trouble neurologique; Trouble sensibilité; Cycle veille sommeil</FG>
<ED>Nervous system diseases; Restless legs syndrome; Locus; Heterogeneity; Genetic linkage; Sleep</ED>
<EG>Neurological disorder; Sensitivity disorder; Sleep wake cycle</EG>
<SD>Sistema nervioso patología; Acroparestesia nocturna; Locus; Heterogeneidad; Ligamiento genético; Sueño</SD>
<LO>INIST-20953.354000133169150040</LO>
<ID>06-0135490</ID>
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