Genetics articles list

India is a country of immense diversity. It is home to people of many different racial, languages, ethnic, religious, and national backgrounds. Groups of people in India differ from each other not only in physical or demographic characteristics but also in distinctive patterns of behavior and these patterns are determined by social and cultural factors like language, region, religion, and caste. Apart from behaviour, economic development, level of education and political culture of the people in various social segments differ from region to region. More you can say that economy and cultures have been enriched by the contributions of migrants from round the globe. In an increasingly globalised world, migratory movements is continuously shaping the countries all over the world. Some countries like India and Ireland, which set the example of economic development and social integration, have the positive impact of the migration by globalisation and some countries like USA, which recently witness racism, xenophobia and discrimination have the negative impact on the migrants. It does not mean India do not face fragmentation and USA do not have cohesion. USA have many stories which show successful integration process, that facilitated the lives of immigrant communities, but being a developed country it still suffers from cultural alienation. In these countries, borders are built within borders to create cultural divides that do not allow people to integrate. Recently, this problem has become more prominent due to the rise of terrorism, clash of cultures in the world, leading to the glorification of stereotypes. People are becoming less accepting towards anyone who does not belong to their region. Migration does not stop after people move from one place to another place. The main question start after that ‘now what’ they will do. That is why this topic needs to be discussed thoroughly in order to find better solutions. This paper will begin with an analysis of different approaches to Migration, discuss the target groups for integration policies, provide indicators of the current situation of migrants and proceed to an analysis of integration tools: legislation, social policies and participatory processes. It will focus not only on the impact of migration but also on social integration, mix culture like indo-western culture in a comparative basis.

Ekta Meena

India is a country of immense diversity. It is home to people of many different racial, languages, ethnic, religious, and national backgrounds. Groups of people in India differ from each other not only in physical or demographic characteristics but also in distinctive patterns of behavior and these patterns are determined by social and cultural factors like language, region, religion, and caste. Apart from behaviour, economic development, level of education and political culture of the people in various social segments differ from region to region. More you can say that economy and cultures have been enriched by the contributions of migrants from round the globe. In an increasingly globalised world, migratory movements is continuously shaping the countries all over the world. Some countries like India and Ireland, which set the example of economic development and social integration, have the positive impact of the migration by globalisation and some countries like USA, which recently witness racism, xenophobia and discrimination have the negative impact on the migrants. It does not mean India do not face fragmentation and USA do not have cohesion. USA have many stories which show successful integration process, that facilitated the lives of immigrant communities, but being a developed country it still suffers from cultural alienation. In these countries, borders are built within borders to create cultural divides that do not allow people to integrate. Recently, this problem has become more prominent due to the rise of terrorism, clash of cultures in the world, leading to the glorification of stereotypes. People are becoming less accepting towards anyone who does not belong to their region. Migration does not stop after people move from one place to another place. The main question start after that ‘now what’ they will do. That is why this topic needs to be discussed thoroughly in order to find better solutions. This paper will begin with an analysis of different approaches to Migration, discuss the target groups for integration policies, provide indicators of the current situation of migrants and proceed to an analysis of integration tools: legislation, social policies and participatory processes. It will focus not only on the impact of migration but also on social integration, mix culture like indo-western culture in a comparative basis.

Ekta Meena

In this paper, investigations are made to analyze the human body temperature during wound healing process due to surgery. Wound is considered after the skin graft. Skin graft is a technique used in plastic surgery. Skin is the first line of defense between the human and environment, it is very susceptible to damage. Internal body or core temperature (Tb) is one of the clinical vital signs along with pulse and respiratory rates. Any disturbance in body temperature will drive complexities in wound healing process. These studies are important in the mechanism of establishing the limits of thermal regulation of human body during the healing process in different situations and conditions. The Finite element method is used to analyze tissues temperature for normal tissues (donor site) and abnormal tissues (tissues after surgery). Appropriate boundary conditions have been framed. Numerical results are obtained using Crank Nicolson Method.

Manisha Jain

Physically unclonable function (PUF) is a hardware security module preferred for hardware feature based random number and secret key generation. Security of a cryptographic system relies on the quality of the challenge-response pair, it is necessary that the key generation mechanism must unpredictable and its response should constant under different operating condition. Metastable state in CMOS latch is undesirable since it response becomes unpredictable, this feature used in this work to generate a unique response. A feedback mechanism is developed which forces the latch into the metastable region; after metastable state, latch settle to high or state depends on circuit internal condition and noise which cannot be predicted. Obtained inter hamming variation for 8 PUF is 51% and average intra hamming distance is 99.76% with supply voltage variation and 96.22% with temperature variation.

Abhishek Kumar

One of the unique features of Indian society is prevalence of caste system which was originated thousands of years back to demarcate the people engaged in different occupation or jobs. Initially it was not much rigid but gradually people belonging to upper castes for their own selfish means to maintain their monopoly made this arrangement hereditary and started treating people of lower castes disgracefully. For preservation of this system, people started controlling their women to prevent inter-caste marriages and the concept of endogamy came up. This robbed away many types of freedom from women. For women belonging to lower castes, this situation is worse as they are doubly subjugated on the basis on caste as well as gender. Men belonging to their own caste treat them as secondary beings. This paper throws light on this intersection. How intersection of these two kinds of inequalities place them at the lowest position in Indian society. Dr. B.R. Ambedkar rises as their leader who all his life worked for empowerment of downtrodden section of society. He argues that education is the primary tool for evading these differences among people. He further emphasizes to adopt the concept of exogamy to break the backbone of Indian caste system and to immediately leave a religion or culture which legitimizes such system of inequality among people of the same land.

Swati sharma

One of the unique features of Indian society is prevalence of caste system which was originated thousands of years back to demarcate the people engaged in different occupation or jobs. Initially it was not much rigid but gradually people belonging to upper castes for their own selfish means to maintain their monopoly made this arrangement hereditary and started treating people of lower castes disgracefully. For preservation of this system, people started controlling their women to prevent inter-caste marriages and the concept of endogamy came up. This robbed away many types of freedom from women. For women belonging to lower castes, this situation is worse as they are doubly subjugated on the basis on caste as well as gender. Men belonging to their own caste treat them as secondary beings. This paper throws light on this intersection. How intersection of these two kinds of inequalities place them at the lowest position in Indian society. Dr. B.R. Ambedkar rises as their leader who all his life worked for empowerment of downtrodden section of society. He argues that education is the primary tool for evading these differences among people. He further emphasizes to adopt the concept of exogamy to break the backbone of Indian caste system and to immediately leave a religion or culture which legitimizes such system of inequality among people of the same land.

Swati sharma

Therapeutic nucleic acids demand specificity and accuracy in design as well as delivery strategies used in replacement or silencing of the target gene. Gene therapy is believed to be the therapy in which the root cause of the diseases can be treated at the molecular level. Generally gene therapy helps in the identification of the origin of the disorder instead of using drugs to diminish or control the symptoms. The application of nucleic acids to treat and control diseases is known as “gene therapy.” Gene therapy consists on the substitution or addition of a functional gene into the nucleus of a living cell, in order to treat a disease or repair a dysfunction, caused by this gene failure. This therapy is used to correct defective genes, which are responsible for genetic diseases. Thus, gene therapy can be used to prevent, treat or regulate hereditary or acquired disorders, by the production of therapeutic proteins. The gene therapy is mediated by the use of viral and non-viral vectors to transport foreign genes into somatic cells to restorative defective genes. This review focuses on viral vectors in detail.

Dr.P.V.Kamala Kumari

This study's objective was to determine the distribution of allele frequencies of CYP2C9 and CYP2C19 gene polymorphisms among the Papuan population, known as the second-largest ethnic group in Indonesia. According to recent research, there is a decrease in CYP2C9 and CYP2C19 produced by humans globally, including in Indonesia. These gene polymorphisms aid in the transmission of various endogenous and exogenous drugs in the human body. Material and Methods: A sum of 99 subjects, comprising 73 male and 26 female subjects aged 20-30 years, were used for this research. PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) analysis using AvaII, NsiI, and SfaNI enzymes tested for the genotypes CYP2C9 and CYP2C19 administered. The distribution of genotypes was calculated in the population (P<0.05) using the Hardy-Weinberg equilibrium. The Faculty of Medicine Gadjah Mada University's Medical and Health Research Ethics Committee (MHREC) accepted this research with written consent. The results revealed that in Papua subjects, CYP2C9*2 (rs1799853) and CYP2C19*17 (rs12248560) alleles were absent while in 17 percent of the population CYP2C9*3 (rs1057910) allele frequency was. In conclusion, CYP2C9*3 has the highest polymorphism rate in Indonesia, with the absence of CYP2C9*2 and CYP2C19*17. Therefore, genetic drift can occur within this ethnic group.

Syahrul Tuba

Background: Non-syndromic combined pituitary hormone deficiency (CPHD) occurs due to defects in transcription factors that govern early pituitary development and the specification of hormone-producing cells. The most common mutations are in the Prophet of Pit-1 (ProP1) gene. This work aims to (1) report findings of genetic analyses of Tunisian patients with non-syndromic CPHD and (2) describe their phenotype patterns and their evolution through life. Methods: Fifteen patients from twelve unrelated families with variable clinical phenotypes were included after excluding autoimmune and acquired forms of non-syndromic CPHD. Detailed pedigree charts and auxological, hormonal, radiological, and therapeutic details were recorded. Sanger sequencing was performed, and sequences were analyzed with a specific focus on coding and splice site regions of the ProP1 gene. Retained variants were classified using several in silico pathogenicity prediction tools and the VarSome platform. Results: We identified the common p.Arg73Cys mutation in seven patients from four unrelated pedigrees. We found a novel homozygous mutation (c.340C>T) in one sporadic case. This mutation generates a truncated ProP1 protein, predicted to be non-functional, lacking the last 112 codons (p.(Gln114Ter)). We confirmed by polymerase chain reaction (PCR) the absence of large exon deletions or insertions in the remaining sporadic patients (7/8). Conclusions: We report two mutations {one newly identified [p.(Gln114Ter)] and one previously reported (p.Arg73Cys)} in five unrelated Tunisian families with non-syndromic CPHD. This work is of clinical importance as it reports the high frequency of the p.Arg73Cys mutation in Tunisian CPHD families. Our study also illuminated the involvement of novel gene(s) in the emergence of non-syndromic CPHD.

Mariam moalla

India is a country of immense diversity. It is home to people of many different racial, languages, ethnic, religious, and national backgrounds. Groups of people in India differ from each other not only in physical or demographic characteristics but also in distinctive patterns of behavior and these patterns are determined by social and cultural factors like language, region, religion, and caste. Apart from behaviour, economic development, level of education and political culture of the people in various social segments differ from region to region. More you can say that economy and cultures have been enriched by the contributions of migrants from round the globe. In an increasingly globalised world, migratory movements is continuously shaping the countries all over the world. Some countries like India and Ireland, which set the example of economic development and social integration, have the positive impact of the migration by globalisation and some countries like USA, which recently witness racism, xenophobia and discrimination have the negative impact on the migrants. It does not mean India do not face fragmentation and USA do not have cohesion. USA have many stories which show successful integration process, that facilitated the lives of immigrant communities, but being a developed country it still suffers from cultural alienation. In these countries, borders are built within borders to create cultural divides that do not allow people to integrate. Recently, this problem has become more prominent due to the rise of terrorism, clash of cultures in the world, leading to the glorification of stereotypes. People are becoming less accepting towards anyone who does not belong to their region. Migration does not stop after people move from one place to another place. The main question start after that ‘now what’ they will do. That is why this topic needs to be discussed thoroughly in order to find better solutions. This paper will begin with an analysis of different approaches to Migration, discuss the target groups for integration policies, provide indicators of the current situation of migrants and proceed to an analysis of integration tools: legislation, social policies and participatory processes. It will focus not only on the impact of migration but also on social integration, mix culture like indo-western culture in a comparative basis.

Ekta Meena

India is a country of immense diversity. It is home to people of many different racial, languages, ethnic, religious, and national backgrounds. Groups of people in India differ from each other not only in physical or demographic characteristics but also in distinctive patterns of behavior and these patterns are determined by social and cultural factors like language, region, religion, and caste. Apart from behaviour, economic development, level of education and political culture of the people in various social segments differ from region to region. More you can say that economy and cultures have been enriched by the contributions of migrants from round the globe. In an increasingly globalised world, migratory movements is continuously shaping the countries all over the world. Some countries like India and Ireland, which set the example of economic development and social integration, have the positive impact of the migration by globalisation and some countries like USA, which recently witness racism, xenophobia and discrimination have the negative impact on the migrants. It does not mean India do not face fragmentation and USA do not have cohesion. USA have many stories which show successful integration process, that facilitated the lives of immigrant communities, but being a developed country it still suffers from cultural alienation. In these countries, borders are built within borders to create cultural divides that do not allow people to integrate. Recently, this problem has become more prominent due to the rise of terrorism, clash of cultures in the world, leading to the glorification of stereotypes. People are becoming less accepting towards anyone who does not belong to their region. Migration does not stop after people move from one place to another place. The main question start after that ‘now what’ they will do. That is why this topic needs to be discussed thoroughly in order to find better solutions. This paper will begin with an analysis of different approaches to Migration, discuss the target groups for integration policies, provide indicators of the current situation of migrants and proceed to an analysis of integration tools: legislation, social policies and participatory processes. It will focus not only on the impact of migration but also on social integration, mix culture like indo-western culture in a comparative basis.

Ekta Meena

In this paper, investigations are made to analyze the human body temperature during wound healing process due to surgery. Wound is considered after the skin graft. Skin graft is a technique used in plastic surgery. Skin is the first line of defense between the human and environment, it is very susceptible to damage. Internal body or core temperature (Tb) is one of the clinical vital signs along with pulse and respiratory rates. Any disturbance in body temperature will drive complexities in wound healing process. These studies are important in the mechanism of establishing the limits of thermal regulation of human body during the healing process in different situations and conditions. The Finite element method is used to analyze tissues temperature for normal tissues (donor site) and abnormal tissues (tissues after surgery). Appropriate boundary conditions have been framed. Numerical results are obtained using Crank Nicolson Method.

Manisha Jain

Physically unclonable function (PUF) is a hardware security module preferred for hardware feature based random number and secret key generation. Security of a cryptographic system relies on the quality of the challenge-response pair, it is necessary that the key generation mechanism must unpredictable and its response should constant under different operating condition. Metastable state in CMOS latch is undesirable since it response becomes unpredictable, this feature used in this work to generate a unique response. A feedback mechanism is developed which forces the latch into the metastable region; after metastable state, latch settle to high or state depends on circuit internal condition and noise which cannot be predicted. Obtained inter hamming variation for 8 PUF is 51% and average intra hamming distance is 99.76% with supply voltage variation and 96.22% with temperature variation.

Abhishek Kumar

One of the unique features of Indian society is prevalence of caste system which was originated thousands of years back to demarcate the people engaged in different occupation or jobs. Initially it was not much rigid but gradually people belonging to upper castes for their own selfish means to maintain their monopoly made this arrangement hereditary and started treating people of lower castes disgracefully. For preservation of this system, people started controlling their women to prevent inter-caste marriages and the concept of endogamy came up. This robbed away many types of freedom from women. For women belonging to lower castes, this situation is worse as they are doubly subjugated on the basis on caste as well as gender. Men belonging to their own caste treat them as secondary beings. This paper throws light on this intersection. How intersection of these two kinds of inequalities place them at the lowest position in Indian society. Dr. B.R. Ambedkar rises as their leader who all his life worked for empowerment of downtrodden section of society. He argues that education is the primary tool for evading these differences among people. He further emphasizes to adopt the concept of exogamy to break the backbone of Indian caste system and to immediately leave a religion or culture which legitimizes such system of inequality among people of the same land.

Swati sharma

One of the unique features of Indian society is prevalence of caste system which was originated thousands of years back to demarcate the people engaged in different occupation or jobs. Initially it was not much rigid but gradually people belonging to upper castes for their own selfish means to maintain their monopoly made this arrangement hereditary and started treating people of lower castes disgracefully. For preservation of this system, people started controlling their women to prevent inter-caste marriages and the concept of endogamy came up. This robbed away many types of freedom from women. For women belonging to lower castes, this situation is worse as they are doubly subjugated on the basis on caste as well as gender. Men belonging to their own caste treat them as secondary beings. This paper throws light on this intersection. How intersection of these two kinds of inequalities place them at the lowest position in Indian society. Dr. B.R. Ambedkar rises as their leader who all his life worked for empowerment of downtrodden section of society. He argues that education is the primary tool for evading these differences among people. He further emphasizes to adopt the concept of exogamy to break the backbone of Indian caste system and to immediately leave a religion or culture which legitimizes such system of inequality among people of the same land.

Swati sharma

The result of this study showed that the growth performance of the two varieties of amaranth were greatly reduced, in terms of number of leaves per plant in the saline treated plant exposed to the highest saline concentration compared to the control. Amaranthus cruentus had more number of leaves (6.63) than Amaranthus hybridus (5.67) and Amaranthus hybridus had higher survival rate than Amranthus cruentus(1.83). Although both test plant varieties responded to varying saline concentrations in various ways, both tends to show similar responds. Also, the number of days to germination increases with increased salinity concentrations the two amaranth varieties was both adversely affected by higher saline concentrations, where increased salinity concentrations caused reduction in shoot length Also, the leave breadth was better in the control and the plants with lower amounts of NaCl concentration(0.025 and 0.05), this implies that Amaranthus hybridus and Amaranthus cruenthus tolerate moderate salinity levels, while the plants with higher salinity concentrations (0.075,0.01,0.15) had leave breadth that were small, and eventually died because of high amounts of salt.

Barka PETER

Background: Non-syndromic combined pituitary hormone deficiency (CPHD) occurs due to defects in transcription factors that govern early pituitary development and the specification of hormone-producing cells. The most common mutations are in the Prophet of Pit-1 (ProP1) gene. This work aims to (1) report findings of genetic analyses of Tunisian patients with non-syndromic CPHD and (2) describe their phenotype patterns and their evolution through life. Methods: Fifteen patients from twelve unrelated families with variable clinical phenotypes were included after excluding autoimmune and acquired forms of non-syndromic CPHD. Detailed pedigree charts and auxological, hormonal, radiological, and therapeutic details were recorded. Sanger sequencing was performed, and sequences were analyzed with a specific focus on coding and splice site regions of the ProP1 gene. Retained variants were classified using several in silico pathogenicity prediction tools and the VarSome platform. Results: We identified the common p.Arg73Cys mutation in seven patients from four unrelated pedigrees. We found a novel homozygous mutation (c.340C>T) in one sporadic case. This mutation generates a truncated ProP1 protein, predicted to be non-functional, lacking the last 112 codons (p.(Gln114Ter)). We confirmed by polymerase chain reaction (PCR) the absence of large exon deletions or insertions in the remaining sporadic patients (7/8). Conclusions: We report two mutations {one newly identified [p.(Gln114Ter)] and one previously reported (p.Arg73Cys)} in five unrelated Tunisian families with non-syndromic CPHD. This work is of clinical importance as it reports the high frequency of the p.Arg73Cys mutation in Tunisian CPHD families. Our study also illuminated the involvement of novel gene(s) in the emergence of non-syndromic CPHD.

Mariam moalla

Purpose: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder mostly characterized by gonadotropins release and/or action deficiencies. Both isolated (idiopathic hypogonadotropic hypogonadism) and syndromic (Kallmann) forms are identified depending on the olfactory ability. Clinical and genetic heterogeneities of CHH have been widely explored, thus improving our understanding of the disease's pathophysiology. This work aims to (1) provide a detailed clinical and hormonal description of normosmic CHH patients and (2) identify the mutation linked to the studied phenotype. Participants and methods: We investigated three affected patients with normosmic CHH, belonging to a consanguineous Tunisian family. Patients underwent an insulin-induced hypoglycemia test. We performed whole exome sequencing to identify the causal mutation. Results: At first diagnosis, a total gonadotropic deficiency was identified in all patients. The insulin-induced hypoglycemia test has also revealed a reduced cortisol secretion and complete growth hormone deficiency. At 20.8 years, one female exhibited a spontaneous recovery of the hypothalamic-pituitary-adrenal axis function, unlike her affected siblings who still depend on corticosteroid replacement therapy. Herein, we identified a novel homozygous nonstop mutation (c.1195T>C) in KISS1R gene in all affected subjects. This mutation led to the substitution of the physiologic stop codon by an arginine (p.X399R). Conclusions: Our study highlights the importance of the KISS1R signaling, in gonadotropin-releasing hormone neurons, in the control of reproductive function. Additionally, our data suggests a complex central and peripheral metabolic control of puberty, through the hypothalamic KISS1R signaling. We suggest a mutual link between the hypothalamic-pituitary-gonadal, -adrenal, and -somatotropic axes.

Mariam moalla

Introduction/aims: Maturity-Onset Diabetes of the Young (MODY) is a monogenic non-autoimmune diabetes with 14 different genetic forms. MODY-related mutations are rarely found in the Tunisian population. Here, we explored MODY related genes sequences among seventeen unrelated Tunisian probands qualifying the MODY clinical criteria. Materials and methods: The GCK and HNF1A genes were systematically analyzed by direct sequencing in all probands. Then, clinical exome sequencing of 4,813 genes was performed on three unrelated patients. Among them, 130 genes have been reported to be involved in the regulation of glucose metabolism, β-cell development, differentiation and function. All identified variants were analyzed according to their frequencies in the GnomAD database and validated by direct sequencing. Results: We identified the previously reported GCK mutation (rs1085307455) in one patient. The clinical features of the MODY2 proband were similar to previous reports. In this study, we revealed rare and novel alterations in GCK (rs780806456) and ABCC8 (rs201499958) genes with uncertain significance. We also found two likely benign alterations in HNF1A (rs1800574) and KLF11 (rs35927125) genes with minor allele frequencies similar to those depicted in public databases. No pathogenic variants have been identified through clinical exome analysis. Conclusions: The most appropriate patients were selected, following a strict clinical screening approach, for genetic testing. However, the known MODY1-13 genes could not explain most of the Tunisian MODY cases, suggesting the involvement of unidentified genes in the majority of Tunisian affected families.

Mariam moalla