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RISS 인기검색어
- 검색키워드
- 저자 : Muhammad Yasir Zahoor (검색결과 3 건)
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Dengue Virus Serotypes Circulating in Khyber Pakhtunkhwa Province, Pakistan, 2013-2015
Muhammad Suleman,Rani Faryal,Muhammad Masroor Alam,Salmaan Sharif,Shahzad Shaukat,Uzma Bashir Aamir,Adnan Khurshid,Mehar Angez,Massab Umair,Mian Muhammad Sufian,Yasir Arshad,Syed Sohail Zahoor Zaidi 대한진단검사의학회 2017 Annals of Laboratory Medicine Vol.37 No.2
From 2013 to 2015, the National Institute of Health, Pakistan, received 1,270 blood samples of suspected dengue cases reported from inpatient and outpatient departments of various hospitals in Khyber Pakhtunkhwa (KPK) province. In this study, we determined the circulating dengue virus (DENV) serotypes using real-time reverse transcriptase (RT)-PCR to understand the serotype-based epidemiology of DENV. All four serotypes (DENV-1 [6%], DENV-2 [33%], DENV-3 [47%], and DENV-4 [0.1%]) were found circulating during the study period. Our findings suggest the need for an active surveillance system coupled with the laboratory diagnosis, especially in the chronic endemic areas of the country. Public awareness programs are needed for effective control and prevention of outbreaks in the future.
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Iqra Ghulam Rasool,Muhammad Yasir Zahoor,Muhammad Iqbal,Aftab Ahmad Anjum,Fatima Ashraf,Hafiz Qamar Abbas,Hafiz Muhammad Azhar Baig,Tariq Mahmood,Wasim Shehzad 한국유전학회 2021 Genes & Genomics Vol.43 No.5
Background Intellectual disability (ID) is a heterogeneous disorder afecting 1–3% of the population. Elucidation of monogenic variants for ID is a current challenge. These variants can be better demonstrated in consanguineous afected families. Objective The study was designed to fnd the genetic variants of ID in consanguineous families. Methods We analyzed fve unrelated consanguineous Pakistani families afected with ID using whole exome sequencing (WES). Data was analyzed using diferent bioinformatics tools and software. Results We mapped four variants including three novels in four diferent ID known genes. Each variant is found in a different family, co-segregating with a recessive pattern of inheritance. The novel variants found are; c. 2_4del (p.?) mapped in ROS1 and c. 718G>A (p.Gly240Arg) in GRM1. Another novel causative variant, c.2673del (p.Gly892Aspfs*17) identifed in COL18A1 in a recessive form, a gene reported for Knobloch syndrome that manifests ID along with typical retinal abnormalities, and this phenotype was confrmed on reverse phenotyping. A mutation c.2134C>T (p.Arg712*) in TRAPPC9 has been found frst time in the homozygous recessive form in our enrolled three afected siblings while it was previously reported in compound heterozygous form in a Caucasian descent. While ffth family remained unsolved. Conclusion These mutations in four diferent genes with a recessive inheritance would be a contribution to the disease variant database of this devastating disorder.
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Rasool Iqra Ghulam,Zahoor Muhammad Yasir,Ahmed Irfan,Iqbal Muhammad,Shafqat Shehla,Anjum Aftab Ahmad,Shehzad Wasim 한국유전학회 2023 Genes & Genomics Vol.45 No.4
Background Intellectual disability (ID) is a neurodevelopmental condition, affecting 1–3% of the population. Genetic factors play a key role causing the limitation in intellectual functioning and adaptive behavior. The heterogeneity of ID makes it more difficult for genetic and clinical diagnosis. Mapping of variants through next generation DNA sequencing in consanguineous families would help to understand the molecular parthenogenesis of ID. Objective The aim of this study was to describe the genetic variants of ID in consanguineous Pakistani families. Methods We analyzed four unrelated consanguineous Pakistani families having an intellectual disability through whole exome sequencing (WES). Data was analyzed using different bioinformatics tools and software. Results We mapped four novel variants in different ID genes. Each variant is found in different family, co-segregating with a recessive pattern of inheritance. The variants found are; c.1437delG:p.Asn480Thrfs*10, mapped in FKRP, c.2041 C>A:p.Leu681Met in HIRA, c.382 C>T:p.Arg128Cys in BDH1 and c.267+1G>A:p.? identified in TRAPPC6B. Conclusions These variants help in demonstration of status and molecular basis of intellectual disability in Pakistani population leading to provision of genetic counseling services and a contribution in disease variant database.
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