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Papers by Hanane Bellayou

Journal of Biomedicine and Biotechnology, 2009

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive diso... more Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of immunohistochemical and genetic analysis in the diagnosis of these dystrophies, we present 10 cases of DMD/BMD with particular features. We have analyzed the patients with immunohistochemical staining and PCR multiplex to screen for exons deletions. Determination of the quantity and distribution of dystrophin by immunohistochemical staining can confirm the presence of dystrophinopathy and allows differentiation between DMD and BMD, but dystrophin staining is not always conclusive in BMD. Therefore, only identification involved mutation by genetic analysis can establish a correct diagnosis.

13 Labo de biologie de la reproduction, Hôpital Edouard Herriot, Lyon; France

Archives de Pédiatrie, 2008

Pathologie Biologie, 2008

The common prion protein gene (PRNP) codon 129 polymorphism is a strong susceptibility factor for... more The common prion protein gene (PRNP) codon 129 polymorphism is a strong susceptibility factor for human prion diseases. In this study, we examined the allelic variation of methionine and valine at codon 129 in 147 subjects representing the normal Moroccan population.

Journal of Molecular Neuroscience, 2013

Duchenne muscular dystrophy (DMD) is the commonest of the muscular dystrophies. The DMD gene (DMD... more Duchenne muscular dystrophy (DMD) is the commonest of the muscular dystrophies. The DMD gene (DMD) is the biggest human gene and the most common molecular defect in the DMD gene, accounting for approximately 65 % of cases of DMD, is the deletion of one or more exons. The most basic method still in regular use involves multiplex PCR of the exons, known to be most commonly deleted. The multiplex is relatively simple. Quantitative analysis of all exons of the gene and multiplex ligation-dependent probe amplification have brought about an improvement in mutation detection rate, as they will detect all exon scale deletions as well as duplications, widely used to detect exonic and intronic mutations. As a sensitive and discriminative tool, MLPA can be used for prenatal testing. A more recent development in quantitative analysis is the use of oligonucleotide-based array comparative genomic hybridization.

Pathologie Biologie, 2008

The common prion protein gene (PRNP) codon 129 polymorphism is a strong susceptibility factor for... more The common prion protein gene (PRNP) codon 129 polymorphism is a strong susceptibility factor for human prion diseases. In this study, we examined the allelic variation of methionine and valine at codon 129 in 147 subjects representing the normal Moroccan population. The sharing of the genotype was 57.1% for Methionine-Methionine (MM), 36% for Methionine-Valine (MV), and 6, 8% for Valine-Valine (VV). These results are indeed intermediate between those discovered at the European and Asian populations. However, and for a better assessment of the risk to develop prion diseases in the Moroccan population, the survey of the frequency of the codon 219 polymorphism is required.

Neurology India, 2010

Myotonic dystrophy (DM) is a multisystemic neuromuscular disorder caused by a dynamic mutation of... more Myotonic dystrophy (DM) is a multisystemic neuromuscular disorder caused by a dynamic mutation of (CTG) trinucleotide repeats in the 3' untranslated region of the myotonic dystrophy protein kinase gene (DMPK). The aim of the present study was to establish the use of polymerase chain reaction (PCR)-based simple and rapid method for initial sample screening. Only a minority of samples were tested positive with the above method and need to be detected by tri primer (TP)-PCR and Southern blotting which is more time consuming and involves use of radioactive material. This study concerned 24 patients from nine families with a clinical diagnosis of the DM1. DNA extracted from the blood was used for amplification of the triplet repeat sequences at the DMPK loci. We obtained two bands for the normal subjects and one band for patients corresponding to normal DMPK allele, confirmed by the TP-PCR and the Southern blot. This rapid test for initial screening of samples for the presence of DMPK mutations is economical and reliable method. This method reduces the number of samples needing TP-PCR and Southern blotting.

Journal of Molecular Neuroscience, 2013

Duchenne muscular dystrophy (DMD) is the commonest of the muscular dystrophies. The DMD gene (DMD... more Duchenne muscular dystrophy (DMD) is the commonest of the muscular dystrophies. The DMD gene (DMD) is the biggest human gene and the most common molecular defect in the DMD gene, accounting for approximately 65 % of cases of DMD, is the deletion of one or more exons. The most basic method still in regular use involves multiplex PCR of the exons, known to be most commonly deleted. The multiplex is relatively simple. Quantitative analysis of all exons of the gene and multiplex ligation-dependent probe amplification have brought about an improvement in mutation detection rate, as they will detect all exon scale deletions as well as duplications, widely used to detect exonic and intronic mutations. As a sensitive and discriminative tool, MLPA can be used for prenatal testing. A more recent development in quantitative analysis is the use of oligonucleotide-based array comparative genomic hybridization.

Human Molecular Genetics, 2009

Annals of Human Biology, 2010

Evidence of the influence of genetic risk factors on cardiovascular diseases is more or less esta... more Evidence of the influence of genetic risk factors on cardiovascular diseases is more or less established. These genetic factors are involved in several pathways affecting blood pressure regulation, blood coagulation, homocysteine and lipid metabolisms. We evaluated frequencies of five genetic polymorphisms to assess their informativeness as markers for prospective clinical studies. 182 healthy Moroccan subjects were genotyped for ACE I/D by amplification alone and by amplification followed by enzymatic digestion for other polymorphisms. Allele frequencies of ACE ID, MTHFR C677T were 76.6%, 26.9% for D and T alleles, respectively. APOE polymorphism showed 11.3%, 78.6% and 10.2% for the alleles E2, E3 and E4, respectively. The frequency for FII G20210A polymorphism was around 2.7% for A allele. Our data showed an absence of FVL mutation. Using allele frequencies, genetic distances between Moroccan and other populations revealed an independent variability of these polymorphisms. These values appear to be influenced by findings in European and African peoples, and may be considered in assessing the clinical significance of a predisposition to cardiovascular disease.

Journal of Biomedicine and Biotechnology, 2009

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive diso... more Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of immunohistochemical and genetic analysis in the diagnosis of these dystrophies, we present 10 cases of DMD/BMD with particular features. We have analyzed the patients with immunohistochemical staining and PCR multiplex to screen for exons deletions. Determination of the quantity and distribution of dystrophin by immunohistochemical staining can confirm the presence of dystrophinopathy and allows differentiation between DMD and BMD, but dystrophin staining is not always conclusive in BMD. Therefore, only identification involved mutation by genetic analysis can establish a correct diagnosis.

Journal of Biomedicine and Biotechnology, 2009

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive diso... more Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of immunohistochemical and genetic analysis in the diagnosis of these dystrophies, we present 10 cases of DMD/BMD with particular features. We have analyzed the patients with immunohistochemical staining and PCR multiplex to screen for exons deletions. Determination of the quantity and distribution of dystrophin by immunohistochemical staining can confirm the presence of dystrophinopathy and allows differentiation between DMD and BMD, but dystrophin staining is not always conclusive in BMD. Therefore, only identification involved mutation by genetic analysis can establish a correct diagnosis.

13 Labo de biologie de la reproduction, Hôpital Edouard Herriot, Lyon; France

Archives de Pédiatrie, 2008

Pathologie Biologie, 2008

The common prion protein gene (PRNP) codon 129 polymorphism is a strong susceptibility factor for... more The common prion protein gene (PRNP) codon 129 polymorphism is a strong susceptibility factor for human prion diseases. In this study, we examined the allelic variation of methionine and valine at codon 129 in 147 subjects representing the normal Moroccan population.

Journal of Molecular Neuroscience, 2013

Duchenne muscular dystrophy (DMD) is the commonest of the muscular dystrophies. The DMD gene (DMD... more Duchenne muscular dystrophy (DMD) is the commonest of the muscular dystrophies. The DMD gene (DMD) is the biggest human gene and the most common molecular defect in the DMD gene, accounting for approximately 65 % of cases of DMD, is the deletion of one or more exons. The most basic method still in regular use involves multiplex PCR of the exons, known to be most commonly deleted. The multiplex is relatively simple. Quantitative analysis of all exons of the gene and multiplex ligation-dependent probe amplification have brought about an improvement in mutation detection rate, as they will detect all exon scale deletions as well as duplications, widely used to detect exonic and intronic mutations. As a sensitive and discriminative tool, MLPA can be used for prenatal testing. A more recent development in quantitative analysis is the use of oligonucleotide-based array comparative genomic hybridization.

Pathologie Biologie, 2008

The common prion protein gene (PRNP) codon 129 polymorphism is a strong susceptibility factor for... more The common prion protein gene (PRNP) codon 129 polymorphism is a strong susceptibility factor for human prion diseases. In this study, we examined the allelic variation of methionine and valine at codon 129 in 147 subjects representing the normal Moroccan population. The sharing of the genotype was 57.1% for Methionine-Methionine (MM), 36% for Methionine-Valine (MV), and 6, 8% for Valine-Valine (VV). These results are indeed intermediate between those discovered at the European and Asian populations. However, and for a better assessment of the risk to develop prion diseases in the Moroccan population, the survey of the frequency of the codon 219 polymorphism is required.

Neurology India, 2010

Myotonic dystrophy (DM) is a multisystemic neuromuscular disorder caused by a dynamic mutation of... more Myotonic dystrophy (DM) is a multisystemic neuromuscular disorder caused by a dynamic mutation of (CTG) trinucleotide repeats in the 3' untranslated region of the myotonic dystrophy protein kinase gene (DMPK). The aim of the present study was to establish the use of polymerase chain reaction (PCR)-based simple and rapid method for initial sample screening. Only a minority of samples were tested positive with the above method and need to be detected by tri primer (TP)-PCR and Southern blotting which is more time consuming and involves use of radioactive material. This study concerned 24 patients from nine families with a clinical diagnosis of the DM1. DNA extracted from the blood was used for amplification of the triplet repeat sequences at the DMPK loci. We obtained two bands for the normal subjects and one band for patients corresponding to normal DMPK allele, confirmed by the TP-PCR and the Southern blot. This rapid test for initial screening of samples for the presence of DMPK mutations is economical and reliable method. This method reduces the number of samples needing TP-PCR and Southern blotting.

Journal of Molecular Neuroscience, 2013

Duchenne muscular dystrophy (DMD) is the commonest of the muscular dystrophies. The DMD gene (DMD... more Duchenne muscular dystrophy (DMD) is the commonest of the muscular dystrophies. The DMD gene (DMD) is the biggest human gene and the most common molecular defect in the DMD gene, accounting for approximately 65 % of cases of DMD, is the deletion of one or more exons. The most basic method still in regular use involves multiplex PCR of the exons, known to be most commonly deleted. The multiplex is relatively simple. Quantitative analysis of all exons of the gene and multiplex ligation-dependent probe amplification have brought about an improvement in mutation detection rate, as they will detect all exon scale deletions as well as duplications, widely used to detect exonic and intronic mutations. As a sensitive and discriminative tool, MLPA can be used for prenatal testing. A more recent development in quantitative analysis is the use of oligonucleotide-based array comparative genomic hybridization.

Human Molecular Genetics, 2009

Annals of Human Biology, 2010

Evidence of the influence of genetic risk factors on cardiovascular diseases is more or less esta... more Evidence of the influence of genetic risk factors on cardiovascular diseases is more or less established. These genetic factors are involved in several pathways affecting blood pressure regulation, blood coagulation, homocysteine and lipid metabolisms. We evaluated frequencies of five genetic polymorphisms to assess their informativeness as markers for prospective clinical studies. 182 healthy Moroccan subjects were genotyped for ACE I/D by amplification alone and by amplification followed by enzymatic digestion for other polymorphisms. Allele frequencies of ACE ID, MTHFR C677T were 76.6%, 26.9% for D and T alleles, respectively. APOE polymorphism showed 11.3%, 78.6% and 10.2% for the alleles E2, E3 and E4, respectively. The frequency for FII G20210A polymorphism was around 2.7% for A allele. Our data showed an absence of FVL mutation. Using allele frequencies, genetic distances between Moroccan and other populations revealed an independent variability of these polymorphisms. These values appear to be influenced by findings in European and African peoples, and may be considered in assessing the clinical significance of a predisposition to cardiovascular disease.

Journal of Biomedicine and Biotechnology, 2009

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive diso... more Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of immunohistochemical and genetic analysis in the diagnosis of these dystrophies, we present 10 cases of DMD/BMD with particular features. We have analyzed the patients with immunohistochemical staining and PCR multiplex to screen for exons deletions. Determination of the quantity and distribution of dystrophin by immunohistochemical staining can confirm the presence of dystrophinopathy and allows differentiation between DMD and BMD, but dystrophin staining is not always conclusive in BMD. Therefore, only identification involved mutation by genetic analysis can establish a correct diagnosis.