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INVESTIGATION OF POLYMORPHISMS IN HYPERVARIABLE REGION II (HVII) SEQUENCES OF HUMAN MITOCHONDRIAL DNA IN TWO NORTH-AFRICAN POPULATIONS

Identifieur interne : 000034 ( Francis/Corpus ); précédent : 000033; suivant : 000035

INVESTIGATION OF POLYMORPHISMS IN HYPERVARIABLE REGION II (HVII) SEQUENCES OF HUMAN MITOCHONDRIAL DNA IN TWO NORTH-AFRICAN POPULATIONS

Auteurs : Sabeh Frigi ; Hajer Ennafaa ; Lotfi Cherni ; AMEL EL GAAIED

Source :

RBID : Francis:11-0316128

Descripteurs français

English descriptors

Abstract

MtDNA analysis has been focused mainly on the first hypervariable region (HVI). This paper deals with polymorphisms in the HVII of two Tunisian populations (Sejnane and Takrouna). Particular attention was paid to nucleotide site 73 which is particularly informative when studying European populations as well as polymorphisms in a mononucleotide repeat poly-C stretch between position 303 and 315 nucleotides (D310) which has been identified recently as a frequent hot-spot of deletion/insertion mutations in tumors. Our results demonstrate that site 73 plays a central role in distinguishing between haplogroups. We show that the subset of sequences carrying adenine at site 73 belongs to haplogroups H and V and has a much more recent common mitochondrial DNA ancestor than the subset of sequences with guanine at that site. The polymorphism of the 303-315 mitochondrial microsatellite in the two communities shows that this mitochondrial C-stretch is a frequent hot spot of mononucleotide insertions. The results showed that the two haplotypes 309.1 315.1 and 309-315.1 are the most frequent in all studied populations. Our results also confirm the high diversity of the population of Sejnane compared with Takrouna and other populations.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

pA  
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A03   1    @0 Anthropologie : (Brno)
A05       @2 47
A06       @2 1-2
A08 01  1  ENG  @1 INVESTIGATION OF POLYMORPHISMS IN HYPERVARIABLE REGION II (HVII) SEQUENCES OF HUMAN MITOCHONDRIAL DNA IN TWO NORTH-AFRICAN POPULATIONS
A11 01  1    @1 FRIGI (Sabeh)
A11 02  1    @1 ENNAFAA (Hajer)
A11 03  1    @1 CHERNI (Lotfi)
A11 04  1    @1 AMEL EL GAAIED
A14 01      @1 Laboratory of Molecular genetics, Immunology and Human Pathology Faculty of Sciences of Tunis University El Manar @2 1060 Tunis @3 TUN @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut.
A20       @1 107-118
A21       @1 2009
A23 01      @0 ENG
A43 01      @1 INIST @2 23697 @5 354000192533690110
A44       @0 0000 @1 © 2011 INIST-CNRS. All rights reserved.
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A60       @1 P
A61       @0 A
A64 01  1    @0 Anthropologie : (Brno)
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A68 01  1  FRE  @1 L'ENQUÊTE SUR LES POLYMORPHISMS DANS LA RÉGION HYPERVARIABLE II (HVII) SEQUENCES D'ADN MITOCHONDRIAL HUMAIN DANS DEUX POPULATIONS AFRICAINES-NORD
C01 01    ENG  @0 MtDNA analysis has been focused mainly on the first hypervariable region (HVI). This paper deals with polymorphisms in the HVII of two Tunisian populations (Sejnane and Takrouna). Particular attention was paid to nucleotide site 73 which is particularly informative when studying European populations as well as polymorphisms in a mononucleotide repeat poly-C stretch between position 303 and 315 nucleotides (D310) which has been identified recently as a frequent hot-spot of deletion/insertion mutations in tumors. Our results demonstrate that site 73 plays a central role in distinguishing between haplogroups. We show that the subset of sequences carrying adenine at site 73 belongs to haplogroups H and V and has a much more recent common mitochondrial DNA ancestor than the subset of sequences with guanine at that site. The polymorphism of the 303-315 mitochondrial microsatellite in the two communities shows that this mitochondrial C-stretch is a frequent hot spot of mononucleotide insertions. The results showed that the two haplotypes 309.1 315.1 and 309-315.1 are the most frequent in all studied populations. Our results also confirm the high diversity of the population of Sejnane compared with Takrouna and other populations.
C02 01  N    @0 52922 @1 III
C02 02  N    @0 529
C03 01  N  FRE  @0 Afrique du Nord @2 NG @5 01
C03 01  N  ENG  @0 North Africa @2 NG @5 01
C03 02  N  FRE  @0 Tunisie @2 NG @5 02
C03 02  N  ENG  @0 Tunisia @2 NG @5 02
C03 03  N  FRE  @0 Polymorphisme @5 03
C03 03  N  ENG  @0 Polymorphism @5 03
C03 04  S  FRE  @0 Caractère @5 04
C03 04  S  ENG  @0 Character @5 04
C03 05  N  FRE  @0 Génétique @5 05
C03 05  N  ENG  @0 Genetics @5 05
C03 06  N  FRE  @0 Génétique des populations @2 NI @5 06
C03 06  N  ENG  @0 Population genetics @2 NI @5 06
C03 07  N  FRE  @0 Méthode quantitative @5 07
C03 07  N  ENG  @0 Quantitative method @5 07
C03 08  N  FRE  @0 Comparaison @5 08
C03 08  N  ENG  @0 Comparison @5 08
C03 09  N  FRE  @0 Berbère @2 NN @5 09
C03 09  N  ENG  @0 Berber @2 NN @5 09
C03 10  N  FRE  @0 Séquence @4 INC @5 28
N21       @1 213

Format Inist (serveur)

NO : FRANCIS 11-0316128 INIST
FT : (L'ENQUÊTE SUR LES POLYMORPHISMS DANS LA RÉGION HYPERVARIABLE II (HVII) SEQUENCES D'ADN MITOCHONDRIAL HUMAIN DANS DEUX POPULATIONS AFRICAINES-NORD)
ET : INVESTIGATION OF POLYMORPHISMS IN HYPERVARIABLE REGION II (HVII) SEQUENCES OF HUMAN MITOCHONDRIAL DNA IN TWO NORTH-AFRICAN POPULATIONS
AU : FRIGI (Sabeh); ENNAFAA (Hajer); CHERNI (Lotfi); AMEL EL GAAIED
AF : Laboratory of Molecular genetics, Immunology and Human Pathology Faculty of Sciences of Tunis University El Manar/1060 Tunis/Tunisie (1 aut., 2 aut., 3 aut., 4 aut.)
DT : Publication en série; Niveau analytique
SO : Anthropologie : (Brno); ISSN 0323-1119; Tchèque, République; Da. 2009; Vol. 47; No. 1-2; Pp. 107-118; Bibl. 1 p.1/4
LA : Anglais
EA : MtDNA analysis has been focused mainly on the first hypervariable region (HVI). This paper deals with polymorphisms in the HVII of two Tunisian populations (Sejnane and Takrouna). Particular attention was paid to nucleotide site 73 which is particularly informative when studying European populations as well as polymorphisms in a mononucleotide repeat poly-C stretch between position 303 and 315 nucleotides (D310) which has been identified recently as a frequent hot-spot of deletion/insertion mutations in tumors. Our results demonstrate that site 73 plays a central role in distinguishing between haplogroups. We show that the subset of sequences carrying adenine at site 73 belongs to haplogroups H and V and has a much more recent common mitochondrial DNA ancestor than the subset of sequences with guanine at that site. The polymorphism of the 303-315 mitochondrial microsatellite in the two communities shows that this mitochondrial C-stretch is a frequent hot spot of mononucleotide insertions. The results showed that the two haplotypes 309.1 315.1 and 309-315.1 are the most frequent in all studied populations. Our results also confirm the high diversity of the population of Sejnane compared with Takrouna and other populations.
CC : 52922; 529
FD : Afrique du Nord; Tunisie; Polymorphisme; Caractère; Génétique; Génétique des populations; Méthode quantitative; Comparaison; Berbère; Séquence
ED : North Africa; Tunisia; Polymorphism; Character; Genetics; Population genetics; Quantitative method; Comparison; Berber
LO : INIST-23697.354000192533690110
ID : 11-0316128

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Francis:11-0316128

Le document en format XML

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<div type="abstract" xml:lang="en">MtDNA analysis has been focused mainly on the first hypervariable region (HVI). This paper deals with polymorphisms in the HVII of two Tunisian populations (Sejnane and Takrouna). Particular attention was paid to nucleotide site 73 which is particularly informative when studying European populations as well as polymorphisms in a mononucleotide repeat poly-C stretch between position 303 and 315 nucleotides (D310) which has been identified recently as a frequent hot-spot of deletion/insertion mutations in tumors. Our results demonstrate that site 73 plays a central role in distinguishing between haplogroups. We show that the subset of sequences carrying adenine at site 73 belongs to haplogroups H and V and has a much more recent common mitochondrial DNA ancestor than the subset of sequences with guanine at that site. The polymorphism of the 303-315 mitochondrial microsatellite in the two communities shows that this mitochondrial C-stretch is a frequent hot spot of mononucleotide insertions. The results showed that the two haplotypes 309.1 315.1 and 309-315.1 are the most frequent in all studied populations. Our results also confirm the high diversity of the population of Sejnane compared with Takrouna and other populations.</div>
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<SO>Anthropologie : (Brno); ISSN 0323-1119; Tchèque, République; Da. 2009; Vol. 47; No. 1-2; Pp. 107-118; Bibl. 1 p.1/4</SO>
<LA>Anglais</LA>
<EA>MtDNA analysis has been focused mainly on the first hypervariable region (HVI). This paper deals with polymorphisms in the HVII of two Tunisian populations (Sejnane and Takrouna). Particular attention was paid to nucleotide site 73 which is particularly informative when studying European populations as well as polymorphisms in a mononucleotide repeat poly-C stretch between position 303 and 315 nucleotides (D310) which has been identified recently as a frequent hot-spot of deletion/insertion mutations in tumors. Our results demonstrate that site 73 plays a central role in distinguishing between haplogroups. We show that the subset of sequences carrying adenine at site 73 belongs to haplogroups H and V and has a much more recent common mitochondrial DNA ancestor than the subset of sequences with guanine at that site. The polymorphism of the 303-315 mitochondrial microsatellite in the two communities shows that this mitochondrial C-stretch is a frequent hot spot of mononucleotide insertions. The results showed that the two haplotypes 309.1 315.1 and 309-315.1 are the most frequent in all studied populations. Our results also confirm the high diversity of the population of Sejnane compared with Takrouna and other populations.</EA>
<CC>52922; 529</CC>
<FD>Afrique du Nord; Tunisie; Polymorphisme; Caractère; Génétique; Génétique des populations; Méthode quantitative; Comparaison; Berbère; Séquence</FD>
<ED>North Africa; Tunisia; Polymorphism; Character; Genetics; Population genetics; Quantitative method; Comparison; Berber</ED>
<LO>INIST-23697.354000192533690110</LO>
<ID>11-0316128</ID>
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   |texte=   INVESTIGATION OF POLYMORPHISMS IN HYPERVARIABLE REGION II (HVII) SEQUENCES OF HUMAN MITOCHONDRIAL DNA IN TWO NORTH-AFRICAN POPULATIONS
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