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Article: Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region

Mestiri, Souhir / Boussetta, Sami / Pakstis, Andrew J / Elkamel, Sarra / Elgaaied, Amel Ben Ammar / Kidd, Kenneth K / Cherni, Lotfi

Elsevier B.V. Gene. 2021 Apr. 20, v. 777

2021

Abstract: The dopamine – related genes, like dopamine D2 receptor (DRD2) gene and ankyrin repeat and kinase domain containing 1 (ANKK1) gene are implicated in neurological functions. Some polymorphisms of the DRD2/ANKK1 locus (TaqIA, TaqIB, TaqID) have been used ... ...

Abstract	The dopamine – related genes, like dopamine D2 receptor (DRD2) gene and ankyrin repeat and kinase domain containing 1 (ANKK1) gene are implicated in neurological functions. Some polymorphisms of the DRD2/ANKK1 locus (TaqIA, TaqIB, TaqID) have been used to study genetic diversity and the evolution of human populations. The present investigation aims to assess the genetic diversity in seven North African populations in order to explore their genetic structure and to compare them to others worldwide populations studied for the same locus.Nine single nucleotide polymorphisms (SNPs) from the DRD2/ANKK1 locus (rs1800497 TaqIA, rs2242592, rs1124492, rs6277, rs6275, rs1079727, rs2002453, rs2234690 and rs1079597 TaqIB) were typed in 366 individuals from seven North African populations: six from Tunisia (Sousse, Smar, Kesra, Kairouan, Mehdia and Kerkennah) and one from Libya.The allelic frequencies of rs2002453 and rs2234690 were higher in the Smar population than in the other North African populations. More, the Smar population showed the lowest average heterozygosity (0.313). The principal component analysis (PCA) showed that the Smar population was clearly separated from others. Furthermore, linkage disequilibrium analysis shown a high linkage disequilibrium in the North African population and essentially in Smar population. Comparison with other world populations has shown that the heterozygosity of North African population was very close to that of the African and European populations. The PCA and the haplotypic analysis suggested the presence of an important Eurasian genetic component for the North African population.These results suggested that the Smar population was isolated from the others North Africans ones by its peculiar genetic structure because of isolation, endogamy and genetic drift. On the other hand, the North African population is characterized by a multi ancestral gene pool from Eurasia and sub-Saharan Africa due to human migration since prehistoric times.
Keywords	dopamine ; dopamine receptors ; evolution ; gene pool ; genes ; genetic drift ; genetic variation ; genomics ; heterozygosity ; humans ; immigration ; linkage disequilibrium ; loci ; principal component analysis ; Eurasia ; Sub-Saharan Africa ; Tunisia
Language	English
Dates of publication	2021-0420
Publishing place	Elsevier B.V.
Document type	Article
Note	NAL-AP-2-clean
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2021.145466
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region.

Mestiri, Souhir / Boussetta, Sami / Pakstis, Andrew J / Elkamel, Sarra / Elgaaied, Amel Ben Ammar / Kidd, Kenneth K / Cherni, Lotfi

Gene

2021 Volume 777, Page(s) 145466

Abstract: The dopamine - related genes, like dopamine D2 receptor (DRD2) gene and ankyrin repeat and kinase domain containing 1 (ANKK1) gene are implicated in neurological functions. Some polymorphisms of the DRD2/ANKK1 locus (TaqIA, TaqIB, TaqID) have been used ... ...

Abstract	The dopamine - related genes, like dopamine D2 receptor (DRD2) gene and ankyrin repeat and kinase domain containing 1 (ANKK1) gene are implicated in neurological functions. Some polymorphisms of the DRD2/ANKK1 locus (TaqIA, TaqIB, TaqID) have been used to study genetic diversity and the evolution of human populations. The present investigation aims to assess the genetic diversity in seven North African populations in order to explore their genetic structure and to compare them to others worldwide populations studied for the same locus. Nine single nucleotide polymorphisms (SNPs) from the DRD2/ANKK1 locus (rs1800497 TaqIA, rs2242592, rs1124492, rs6277, rs6275, rs1079727, rs2002453, rs2234690 and rs1079597 TaqIB) were typed in 366 individuals from seven North African populations: six from Tunisia (Sousse, Smar, Kesra, Kairouan, Mehdia and Kerkennah) and one from Libya. The allelic frequencies of rs2002453 and rs2234690 were higher in the Smar population than in the other North African populations. More, the Smar population showed the lowest average heterozygosity (0.313). The principal component analysis (PCA) showed that the Smar population was clearly separated from others. Furthermore, linkage disequilibrium analysis shown a high linkage disequilibrium in the North African population and essentially in Smar population. Comparison with other world populations has shown that the heterozygosity of North African population was very close to that of the African and European populations. The PCA and the haplotypic analysis suggested the presence of an important Eurasian genetic component for the North African population. These results suggested that the Smar population was isolated from the others North Africans ones by its peculiar genetic structure because of isolation, endogamy and genetic drift. On the other hand, the North African population is characterized by a multi ancestral gene pool from Eurasia and sub-Saharan Africa due to human migration since prehistoric times.
MeSH term(s)	Adult ; Africa, Northern/ethnology ; African Continental Ancestry Group ; Alleles ; Ethnic Groups/genetics ; Female ; Gene Frequency/genetics ; Genetic Predisposition to Disease/genetics ; Genetic Variation/genetics ; Genomics ; Genotype ; Genotyping Techniques ; Haplotypes/genetics ; Heterozygote ; Human Migration ; Humans ; Linkage Disequilibrium/genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Protein-Serine-Threonine Kinases/genetics ; Receptors, Dopamine D2/genetics
Chemical Substances	DRD2 protein, human ; Receptors, Dopamine D2 ; ANKK1 protein, human (EC 2.7.11.1) ; Protein-Serine-Threonine Kinases (EC 2.7.11.1)
Language	English
Publishing date	2021-01-29
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2021.145466
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Article ; Online: The mutational spectrum of HRAS, KRAS, NRAS and FGFR3 genes in bladder cancer.

Ouerhani, Slah / Elgaaied, Amel Ben Ammar

Cancer biomarkers : section A of Disease markers

2011 Volume 10, Issue 6, Page(s) 259–266

Abstract: Bladder cancer is one of the most common cancers worldwide. A number of genetic and epigenetic alterations have been identified in bladder tumorigenesis, including activating mutations in fibroblast growth factor receptor 3 (FGFR3) and RAS family genes. ... ...

Abstract	Bladder cancer is one of the most common cancers worldwide. A number of genetic and epigenetic alterations have been identified in bladder tumorigenesis, including activating mutations in fibroblast growth factor receptor 3 (FGFR3) and RAS family genes. In this study, we have analysed the mutational spectrum of FGFR3 and RAS genes (HRAS, NRAS and KRAS). We have also studied the relationship between mutations. A total of 234 patients with different stages and grades were included in the present study (58 superficial low-grade, 53 superficial high-grade and 123 muscle-invasive tumours). Mutations in exons 1 and 2 of HRAS, KRAS and NRAS genes were screened by PCR and direct sequencing. The hot spot mutations in exons 7, 10 and 15 of the FGFR3 oncogene were studied by multiplex PCR and the SNaP-shot protocol. Overall, 8.97% (21/234) of samples were mutant for one of the RAS genes. Among these mutations 47.61% were detected in KRAS, 33.33% in HRAS and only 19.04% most frequent RAS mutations were KRAS p.G12C and p.G12D. The correlation between RAS mutations and tumour subgroups does not report a statistical significant association (p=0.876). The FGFR3 mutations were detected in 31.19% (73/234) of bladder tumours and were associated with low stages and grades. The study of relationship between RAS and FGFR3 genes revealed that FGFR3 mutations were mutually exclusive with RAS ones (p=10(-4)). In conclusion we retain that activated RAS and FGFR3 do not appear to be drivers in bladder cancer but the mutually exclusive relationship between RAS and FGFR3 mutations indicates a possible clonal advantage of modified signaling via a common pathway.
MeSH term(s)	DNA Mutational Analysis ; Gene Frequency ; Genetic Association Studies ; Humans ; Mutation, Missense ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins p21(ras)/genetics ; Receptor, Fibroblast Growth Factor, Type 3/genetics ; Urinary Bladder Neoplasms/genetics ; ras Proteins/genetics
Chemical Substances	KRAS protein, human ; Proto-Oncogene Proteins ; FGFR3 protein, human (EC 2.7.10.1) ; Receptor, Fibroblast Growth Factor, Type 3 (EC 2.7.10.1) ; HRAS protein, human (EC 3.6.5.2) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2) ; ras Proteins (EC 3.6.5.2)
Language	English
Publishing date	2011
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2203517-5
ISSN	1875-8592 ; 1574-0153 ; 1875-8592
ISSN (online)	1875-8592 ; 1574-0153
ISSN	1875-8592
DOI	10.3233/CBM-2012-0254
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Article ; Online: Structural insight into the binding complex: β-arrestin/CCR5 complex.

Stambouli, Nejla / Dridi, Mehdi / Wei, Ning-Ning / Jlizi, Asma / Bouraoui, Abderahmen / Elgaaied, Amel Ben Ammar

Journal of biomolecular structure & dynamics

2014 Volume 32, Issue 6, Page(s) 866–875

Abstract: The chemokine receptor 5 (CCR5) belongs to the superfamily of serpentine G protein-coupled receptors (GPCRs). The DRY motif (Asp, Arg, Tyr) of the intracellular loop 2 (ICL2), which is highly conserved in the GPCRs has been shown to be essential for the ... ...

Abstract	The chemokine receptor 5 (CCR5) belongs to the superfamily of serpentine G protein-coupled receptors (GPCRs). The DRY motif (Asp, Arg, Tyr) of the intracellular loop 2 (ICL2), which is highly conserved in the GPCRs has been shown to be essential for the stability of folding of CCR5 and the interaction with β-arrestin. But the molecular mechanism by which it recognizes and interacts with β-arrestin has not been elucidated. In the present study, we described the active state of the β-arrestin structure using normal mode analysis and characterized the binding cleft of CCR5-ICL2 with β-arrestin using SABRE© docking tool and molecular dynamics simulation. Based on our computational results, we proposed a mode of binding between the ICL2 loop of CCR5 and β-arrestin structure, and modeled the energetically stable β-arrestin/CCR5 complex. In view of CCR5's importance as a therapeutic target for the treatment of HIV, this observation provides novel insight into the β-arrestin/CCR5 pathway. As a result, the current computational study of the detailed β-arrestin/CCR5 binding complex could provide the rationale for the development of next generation of HIV peptide inhibitors as therapeutic agents.
MeSH term(s)	Amino Acid Sequence ; Arrestins/chemistry ; Binding Sites ; Humans ; Molecular Docking Simulation ; Molecular Dynamics Simulation ; Molecular Sequence Data ; Protein Interaction Domains and Motifs ; Protein Structure, Tertiary ; Receptors, CCR5/chemistry ; Sequence Homology, Amino Acid ; Thermodynamics ; beta-Arrestins
Chemical Substances	Arrestins ; CCR5 protein, human ; Receptors, CCR5 ; beta-Arrestins
Language	English
Publishing date	2014
Publishing country	England
Document type	Journal Article
ZDB-ID	49157-3
ISSN	1538-0254 ; 0739-1102
ISSN (online)	1538-0254
ISSN	0739-1102
DOI	10.1080/07391102.2013.794373
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Article ; Online: Usefulness of COMT gene polymorphisms in North African populations.

Boussetta, Sami / Cherni, Lotfi / Pakstis, Andrew J / Ben Salem, Nesrine / Elkamel, Sarra / Khodjet-El-Khil, Houssein / Kidd, Kenneth K / Elgaaied, Amel Ben Ammar

Gene

2019 Volume 696, Page(s) 186–196

Abstract: The COMT gene encodes for catechol-O-methyl-transferase, an enzyme playing a major role in regulation of synaptic catecholamine neurotransmitters. Investigating 4 markers of the COMT gene (rs2020917, rs4818, rs4680, rs9332377) in 6 Tunisian populations ... ...

Abstract	The COMT gene encodes for catechol-O-methyl-transferase, an enzyme playing a major role in regulation of synaptic catecholamine neurotransmitters. Investigating 4 markers of the COMT gene (rs2020917, rs4818, rs4680, rs9332377) in 6 Tunisian populations and a pool of Libyans. Our objective was to determine the distribution of allelic, genotypic and haplotypic frequencies by comparison to other populations of the 1000 genomes project and 59 populations from the Kidd Lab dataset. The allelic frequencies established for these SNPs in the North African populations are similar to those of Europeans and South Asians. Linkage disequilibrium between these SNPs and haplotypes frequencies are different between populations whose clustering in principal components analysis (PCA) according to their geographic origin was more significant using haplotypic frequencies. COMT activity prediction by haplotypes genotyping could be limited to rs4818-rs4680 micro-haplotypes. The Low activity haplotype (CG) displays the highest frequency in African populations (55%), in the 59 Kidd Lab populations we found also that Sub-Saharan Africans, Native Americans, and some East Asian and Pacific Island populations all have frequencies in the 50-81% range for (CG) where as its lowest frequency was found in Europeans (10%), this results have been also confirmed for Southwest Asians. North Africans and South Asians with intermediate frequencies have approximately similar values (20% and 25%). Europeans show the highest frequencies of haplotypes with predicted High and Medium activity in contrast to Africans. North Africans and South Asians present similar results for all the category of the COMT activity prediction by haplotypes genotyping. The high level of genetic diversity of COMT haplotypes, not only allows distinction between populations according to their history settlement, origin and ethnicity, it constitutes a basis for studies of association of the COMT gene polymorphism with pathologies, drugs response and for forensic investigation in North African populations.
MeSH term(s)	Acclimatization/genetics ; Africa, Northern ; African Continental Ancestry Group/genetics ; Alleles ; Catechol O-Methyltransferase/genetics ; Catechol O-Methyltransferase/metabolism ; Forensic Genetics/methods ; Gene Frequency/genetics ; Haplotypes/genetics ; Healthy Volunteers ; Humans ; Linkage Disequilibrium/genetics ; Pharmacogenetics/methods ; Polymorphism, Single Nucleotide/genetics
Chemical Substances	COMT protein, human (EC 2.1.1.6) ; Catechol O-Methyltransferase (EC 2.1.1.6)
Language	English
Publishing date	2019-02-18
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2019.02.021
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Article ; Online: The prevalence and prognostic significance of KRAS mutation in bladder cancer, chronic myeloid leukemia and colorectal cancer.

Ouerhani, Slah / Bougatef, Karim / Soltani, Ismail / Elgaaied, Amel Ben Ammar / Abbes, Salem / Menif, Samia

Molecular biology reports

2013 Volume 40, Issue 6, Page(s) 4109–4114

Abstract: Mutations in the KRAS gene have been shown to play a key role in the pathogenesis of a variety of human tumours. However the mutational spectrum of KRAS gene differs by organ site. In this study, we have analysed the mutational spectrum of KRAS exon 1 in ...

Abstract	Mutations in the KRAS gene have been shown to play a key role in the pathogenesis of a variety of human tumours. However the mutational spectrum of KRAS gene differs by organ site. In this study, we have analysed the mutational spectrum of KRAS exon 1 in bladder tumours, colorectal cancer (CRC) and chronic myeloid leukemia (CML). A total of 366 patients were included in the present study (234 bladder tumours, 48 CRC and 84 CML). The KRAS mutations are absent in BCR/ABL1 positive CML. This result suggests that BCR/ABL1 fusion gene and KRAS mutations were mutually exclusive. The frequency of KRAS mutations in bladder cancer was estimated at 4.27 %. All of mutations were found in codon 12 and 90 % of them were detected in advanced bladder tumours. However the correlation between KRAS mutations and tumour stage and grade does not report a statistical significant association. The KRAS mutations occur in 35.41 % of patients with CRC. The most frequent mutations were G12C, G12D and G13D. These mutations were significantly correlated with histological differentiation of CRC (p = 0.024). Although the high frequency of KRAS in CRC in comparison to bladder cancer, these two cancers appear to have the same mutational spectrum (p > 0.05).
MeSH term(s)	Codon/genetics ; Colorectal Neoplasms/genetics ; Exons/genetics ; Female ; Genetic Predisposition to Disease ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics ; Male ; Middle Aged ; Mutation/genetics ; Prevalence ; Prognosis ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins p21(ras) ; Urinary Bladder Neoplasms/genetics ; ras Proteins/genetics
Chemical Substances	Codon ; KRAS protein, human ; Proto-Oncogene Proteins ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2) ; ras Proteins (EC 3.6.5.2)
Language	English
Publishing date	2013-05-03
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	186544-4
ISSN	1573-4978 ; 0301-4851
ISSN (online)	1573-4978
ISSN	0301-4851
DOI	10.1007/s11033-013-2512-8
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Article: 1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance.

Esseghir, Nadia / Bouchlaka, Chiraz Souissi / Fredj, Sondess Hadj / Ben Chehida, Amel / Azzouz, Hatem / Fontaine, Monique / Tebib, Neji / Briand, Gilbert / Messaoud, Taieb / Elgaaied, Amel Ben Ammar / Kaabachi, Naziha

Clinical laboratory

2016 Volume 61, Issue 12, Page(s) 1973–1977

Abstract: Background: Lysinuric protein intolerance is an inherited aminoaciduria caused by defective cationic amino acid transport. It is an autosomal recessive disease caused by mutations in the SLC7A 7 gene. The objective of this study was to identify the ... ...

Abstract	Background: Lysinuric protein intolerance is an inherited aminoaciduria caused by defective cationic amino acid transport. It is an autosomal recessive disease caused by mutations in the SLC7A 7 gene. The objective of this study was to identify the mutations of Tunisians patients in order to offer the genetic counseling and the prenatal diagnosis to families. Methods: Five affected Tunisian children (4 girls and 1 boy) belonging to four consanguineous families were considered. The diagnosis was made based on the plasma for amino acids quantification by Ion Exchange chromatography, the DNA for mutational analysis by DHPLC and sequencing, and the amniotic fluid for prenatal diagnosis. Results: For the 5 patients, clinical features were dominated by failure to thrive, bone marrow abnormalities, hepatosplenomegaly, and mental retardation. The diagnosis for all patients was confirmed by biochemical analysis with hyperammonemia, hyperexcretion of urinary dibasic amino acids, and a high amount of orotic acid in the urine. The 1471 delTTCT mutation was identified in exon 9 in the homozygous state for all Tunisian patients. Genetic counseling was performed for three out of four families, four heterozygous and two homozygous healthy siblings were identified. The result of prenatal diagnosis showed the presence of the 1471 de1TTCT mutation in the homozygous state for the third pregnancy and heterozygous state for the fourth. Conclusions: The 1471 deITTCT mutation seems to be a common mutation of Tunisian population. The identification of this specific mutation provides a tool for confirmatory diagnosis, genetic counseling, and prenatal diagnosis.
MeSH term(s)	Amino Acid Metabolism, Inborn Errors/genetics ; Child, Preschool ; Female ; Fusion Regulatory Protein 1, Light Chains/genetics ; Gene Deletion ; Humans ; Infant ; Male
Chemical Substances	Fusion Regulatory Protein 1, Light Chains ; SLC7A7 protein, human
Language	English
Publishing date	2016-02-15
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1307629-2
ISSN	1433-6510 ; 0941-2131
ISSN	1433-6510 ; 0941-2131
DOI	10.7754/clin.lab.2015.150519
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Article ; Online: Polymorphisme du microsatellite mitochondrial 303-315 dans le cancer du sein en Tunisie.

Yacoubi-Loueslati, Besma / Troudi, Wafa / Baccar, Amal / Cherni, Lotfi / Rhomdhane, Khaled Ben / Elgaaied, Amel Ben Ammar

Bulletin du cancer

2009 Volume 96, Issue 3, Page(s) 337–342

Abstract: Aim: The aim of this work was to study the correlation between the mitochondrial microsatellite, situated between the nucleotides 303 and 315 of the mitochondrial genome and the breast cancer in Tunisia.: Materials and methods: We have analyzed, by ... ...

Title translation	Polymorphism of the mitochondrial microsatellite 303-315 in breast cancer in Tunisia.
Abstract	Aim: The aim of this work was to study the correlation between the mitochondrial microsatellite, situated between the nucleotides 303 and 315 of the mitochondrial genome and the breast cancer in Tunisia. Materials and methods: We have analyzed, by PCR-sequencing, the polymorphism of a mitochondrial microsatellite in 40 Tunisian patients and 39 healthy Tunisian donors. Comparisons of epidemiologic and sequences data were performed by chi-2 test. Results: We have revealed, for this mitochondrial microsatellite, seven different haplotypes in patients and five different haplotypes in controls. The haplotypic distribution was not significant between patients and controls but a negative association between one of these haplotypes (309+C 315+C) and the lymph node invasion was found. Conclusion: The haplotype 309+C 315+C is negatively correlated with lymph node invasion of breast cancer in Tunisia.
MeSH term(s)	Adult ; Aged ; Breast Neoplasms/genetics ; Carcinoma, Ductal, Breast/genetics ; DNA, Mitochondrial/genetics ; Female ; Haplotypes/genetics ; Humans ; Microsatellite Repeats/genetics ; Middle Aged ; Polymorphism, Genetic/genetics ; Tunisia
Chemical Substances	DNA, Mitochondrial
Language	French
Publishing date	2009-03
Publishing country	France
Document type	English Abstract ; Journal Article
ZDB-ID	213270-9
ISSN	1769-6917 ; 0007-4551
ISSN (online)	1769-6917
ISSN	0007-4551
DOI	10.1684/bdc.2009.0821
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Article: The role of glutathione transferases M1 and T1 in individual susceptibility to bladder cancer in a Tunisian population.

Ouerhani, Slah / Tebourski, Fethi / Slama, Mohamed Riadh Ben / Marrakchi, Raja / Rabeh, Mariam / Hassine, Lotfi Ben / Ayed, Mohsen / Elgaaïed, Amel Ben Ammar

Annals of human biology

2007 Volume 33, Issue 5-6, Page(s) 529–535

Abstract: Background: Susceptibility to bladder cancer is thought to depend on interplay between genetic factors and environmental chemical carcinogens.: Aim: This study seeks to determine the role of the glutathione transferases M1 and T1 null genotypes ( ... ...

Abstract	Background: Susceptibility to bladder cancer is thought to depend on interplay between genetic factors and environmental chemical carcinogens. Aim: This study seeks to determine the role of the glutathione transferases M1 and T1 null genotypes (GSTM10 and GSTT10) in individual susceptibility to bladder cancer in a Tunisian population. Method: Sixty-two patients with transitional cell carcinoma of the bladder cancer and 79 controls were examined with respect to the frequency of GSTM1 and GSTT1 null genotypes. Results: The frequencies of the GSTT1 null in the total group of bladder cancer cases vs. controls did not differ statistically. The proportion of GSTM1 null genotype in patients was 63% compared to 45% in controls group (OR = 2.03; 95% CI 0.97-4.24; p = 0.04). A significantly higher incidence of GSTM1 deletion genotype was found in smokers with bladder cancer compared to the controls (65.38% vs. 45.5%). Smokers lacking the GSTM1 gene are at an approximately 2.2-fold higher risk of bladder cancer (OR= 2.23, 95% CI 1-5.15; p = 0.03). Conclusion: This study suggests that in Tunisian subjects the GSTM1 null genotype may be associated with an increased risk of bladder cancer. This association appears to depend upon smoking status.
MeSH term(s)	Aged ; Carcinoma, Transitional Cell/genetics ; Case-Control Studies ; Female ; Genetic Predisposition to Disease ; Genotype ; Glutathione Transferase/genetics ; Humans ; Male ; Polymerase Chain Reaction ; Risk ; Smoking/adverse effects ; Tunisia/epidemiology ; Urinary Bladder Neoplasms/genetics
Chemical Substances	glutathione S-transferase T1 (EC 2.5.1.-) ; Glutathione Transferase (EC 2.5.1.18) ; glutathione S-transferase M1 (EC 2.5.1.18)
Language	English
Publishing date	2007-02-22
Publishing country	England
Document type	Journal Article
ZDB-ID	186656-4
ISSN	1464-5033 ; 0301-4460
ISSN (online)	1464-5033
ISSN	0301-4460
DOI	10.1080/03014460600907517
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Article: First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance.

Esseghir, Nadia / Bouchlaka, Chiraz Souissi / Fredj, Sondess Hadj / Chehida, Amel Ben / Azzouz, Hatem / Fontaine, Monique / Tebib, Neji / Dridi, Marie Françoise Ben / Briand, Gilbert / Messaoud, Taieb / Elgaaied, Amel Ben Ammar / Kaabachi, Naziha

JIMD reports

2011 Volume 1, Page(s) 37–38

Abstract: Lysinuric protein intolerance (LPI, MIM# 222700) is an inherited aminoaciduria caused by defective transport of cationic amino acids (CAAs; arginine, lysine, ornithine) at the basolateral membrane of epithelial cells in the intestine and kidney. We ... ...

Abstract	Lysinuric protein intolerance (LPI, MIM# 222700) is an inherited aminoaciduria caused by defective transport of cationic amino acids (CAAs; arginine, lysine, ornithine) at the basolateral membrane of epithelial cells in the intestine and kidney. We report the first prenatal diagnosis by direct mutational analysis of LPI performed in a Tunisian family. An amniotic fluid sample was carried out at 16 weeks of gestation in a 32-year-old Tunisian woman who consulted for prenatal diagnosis. The 1471 delTTCT mutation at homozygous state was identified indicating that the fetus was affected by LPI. The identification of this specific mutation provides a tool, which can be easily applied in Tunisia for molecular diagnosis, genetic counseling, and prenatal diagnosis of LPI.
Language	English
Publishing date	2011-06-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	2672872-2
ISSN	2192-8312 ; 2192-8304
ISSN (online)	2192-8312
ISSN	2192-8304
DOI	10.1007/8904_2011_13
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