Molecular genetics of the parasitic protozoan Leishmania

1995 ◽  
Vol 73 (5-6) ◽  
pp. 235-240 ◽  
Author(s):  
Alexander Kin-Choi Wong
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetics ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Parasitic Protozoan ◽  
The Past ◽  
The Family ◽  
Recent Developments ◽  
Genetic Techniques ◽  
Higher Eukaryotes

Leishmania is a member of the family Trypanosomatidae, which causes debilitating diseases in humans. Over the past several years, researchers have applied molecular genetic techniques to study extensively the biology of this parasitic protozoan. Many aspects of Leishmania biology are found to be unique when compared with the higher eukaryotes. This minireview highlights some recent developments in the molecular genetic analysis of this fascinating organism.Key words: Leishmania, protozoan, molecular genetics, disease.

scholarly journals ANALYSIS OF CANDIDATE POLYMORPHISMS AT EPILEPSY PATIENTS WITHOUT MECHANICAL DISTURBANCES

2018 ◽  
pp. 50-57
Author(s):  
O. Kh. Khamdiyeva ◽  
Zh. B. Tileules ◽  
G. S. Baratzhanova ◽  
A. V. Perfilyeva ◽  
Z. A. Menlimuratova ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetics ◽  
De Novo ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Dravet Syndrome ◽  
De Novo Mutation ◽  
Normal Functioning ◽  
Temporal Epilepsy ◽  
Specific Pcr

Thе article presents the results of a molecular-genetics research on patients with diagnosed epilepsy without mechanical disturbance. The aim of this research was the analysis of candidate gene polymorphisms in development of different forms of epilepsy excepting mechanical reasons. 78 patients of V.M. Savinov SVS clinic with different forms of epilepsy were selected for the molecular-genetic analysis. Genotyping on candidate polimorphisms of gene coding the methyl-СрG-binding protein 2 (МЕСР2, 3 polymorphisms), the genes of sodium (SCN1A, 4 polymorphisms) and potassium (KCNT1, 2 polymorphisms) channels was performed by a site-specific PCR-RFLP method. Molecular genetic analysis revealed the presence of normal functioning alleles for 3 investigated candidate polymorphisms (p.Thr158Met, p.Thr197Met, p.Arg306Ter) of 3d exon of МЕСР2 gene at all epilepsy patients. However, 1 case (patient suffering from Dravet syndrome) of de novo mutation was defined for sodium channel gene (SCN1A p.Ala1783Thr) and 3 cases (2 patients suffering from temporal epilepsy and 1 patient with residual encephalopathy) of new mutations in gene responsible for potassium channel (KCNT1 p.Ala934Thr). To determine the inherited SCN1A and KCNT1 mutations, the molecular-genetics analysis was conducted for close relatives of patients. As a result, we conclude that, candidate polymorphisms of SCN1A p.Ala1783Thr and KCNT1 p.Ala934Thr, disrupting the ion channels normal functioning, can be involved in development of non-mechanical forms of epilepsy.

scholarly journals Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

2016 ◽  
Vol 2 (3) ◽  
pp. 261-264 ◽  
Author(s):  
Anders Krogh Broendberg ◽  
Lisbeth Noerum Pedersen ◽  
Jens Cosedis Nielsen ◽  
Henrik Kjaerulf Jensen
Keyword(s):  
Genetic Analysis ◽  
Brugada Syndrome ◽  
Molecular Genetic ◽  
Large Deletion ◽  
Molecular Genetic Analysis ◽  
Scn5a Gene

scholarly journals A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 123
Author(s):  
Cigdem Yuce Kahraman ◽  
Ali Islek ◽  
Abdulgani Tatar ◽  
Özlem Özdemir ◽  
Adil Mardinglu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Atp7b Gene ◽  
Loss Of Function ◽  
Clinical Presentations ◽  
The Family ◽  
The Brain

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.

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