Genetic contribution of GJB2 gene to hearing impairment in Pakistan

Background: Hearing impairment (HI) is defined as inability to hear and is an extremely heterogeneous genetic disorder. HI is divided into syndromic (if associated with clinical manifestation in addition to hearing impairment) and non-syndromic forms. So far one hundred and seventeen loci/genes have been mapped for non-syndromic HI and mutations in DFNB1 locus (GJB2 gene) are the most prevalent cause among them. This study was intended to find the relative contribution of the DFNB1 locus/ GJB2 gene for hearing loss in Pakistan and Azad Kashmir.Methods: Twenty-one families were collected from different rural and urban regions of Pakistan and Azad Kashmir. The contribution of GJB2 gene was initially studied by linkage analysis using short tandem repeats (STR) microsatellite markers. Sanger sequencing was employed to identify the causative variants in coding region of the gene.Results: Phenotype of four families were found linked with GJB2 gene and all affected individuals of these families segregating same mutation c.231G>A (p.Trp77*) which was confirmed after Sanger sequencing.Conclusion: The genetic causes of hearing impairment were studied in twenty one families segregating autosomal recessive pattern of inheritance with different ethnicities. We further established the founder effect for the one recurrent mutation in GJB2 gene in Pakistani and Kashmiri hearing impaired families for the very first time.Keywords: DFNB1; GJB2; Hearing impairment; Pakistan and Kashmi

Awareness of Asthma Genetics in Pakistan: A Review with Some Recommendations

About 334 million people worldwide have been affected by asthma and additionally 100 million expected to have asthma by the year 2025. Being the sixth most populous and economically developing country and with the increasing trend of urbanization and due to poor health facilities, lacking the knowledge of the causes of the disease, increased pollutant exposures and consanguineous marriages, Pakistani population has greater chances of asthma and allergic diseases. Almost 20% of overall pediatric population of Pakistan is affected by this disease. In the past, only environmental factors were considered responsible for asthma but now it is a well-known fact that genetic factors have major contribution in the development of the disease. Poor knowledge of the possibility of genetics involved in this disease has been very common in both uneducated as well as educated population of this region. There is no doubt today that genetics have a major role in the exhibition of asthma but unlike other Mendelian disorders it cannot easily be identified by a single or a simple set of associated genes, rather small contributions of multiple genes and environmental exposure to asthmatic patients may be found. Our focus in this article is genetic factors of asthma in Pakistan. More than 100 genes associated with asthma have already been reported in different populations worldwide but generally, due to an ignored disease in this region, possible genetic causes, impacts, management and treatment of the disease has rarely been studied in Pakistan. This article was intended to explore some latest developments in asthma genetics, diagnosis, prognosis and management and suggest some recommendations to control this deadly disease

Awareness of Asthma Genetics in Pakistan: A Review with Some Recommendations

About 334 million people worldwide have been affected by asthma and additionally 100 million expected to have asthma by the year 2025. Being the sixth most populous and economically developing country and with the increasing trend of urbanization and due to poor health facilities, lacking the knowledge of the causes of the disease, increased pollutant exposures and consanguineous marriages, Pakistani population has greater chances of asthma and allergic diseases. Almost 20% of overall pediatric population of Pakistan is affected by this disease. In the past, only environmental factors were considered responsible for asthma but now it is a well-known fact that genetic factors have major contribution in the development of the disease. Poor knowledge of the possibility of genetics involved in this disease has been very common in both uneducated as well as educated population of this region. There is no doubt today that genetics have a major role in the exhibition of asthma but unlike other Mendelian disorders it cannot easily be identified by a single or a simple set of associated genes, rather small contributions of multiple genes and environmental exposure to asthmatic patients may be found. Our focus in this article is genetic factors of asthma in Pakistan. More than 100 genes associated with asthma have already been reported in different populations worldwide but generally, due to an ignored disease in this region, possible genetic causes, impacts, management and treatment of the disease has rarely been studied in Pakistan. This article was intended to explore some latest developments in asthma genetics, diagnosis, prognosis and management and suggest some recommendations to control this deadly disease

The Burden of Omicron Variant in Pakistan: An Updated Review

A new COVID-19 variant, Omicron, has emerged from South Africa, indicating that the pandemic will not be over anytime soon. An unimaginable amount of economic damage has resulted from the pandemic. Omicron and its economic implications are discussed in detail in this review article. It also includes statistics on occurrence, mortality, and recuperation in Pakistan and data on the country’s immunization coverage. Developing countries with unstable economies, such as Pakistan, have experienced increased economic difficulties. As a result, all developed and underdeveloped countries should strictly adhere to preventive measures and improvements in diagnostic tests and vaccine development to bring the pandemic under control