العجيب المدهش والحدث المقدس في القصص القرآني

هدفت الدراسة إلى تسليط الضوء على نماذج من القصص القرآني، باعتباره قصصا حقق غايات سامية في إطار ما صُوِّرَ من المواقف والأحداث، وما تضمنه من معنى، وكان ذلك مثلا أعلى في عرض حقائق التاريخ، وفي الإشارة إلى معالم تاريخ البشرية، وصور سلوكها، وتأمل مواقف الأمم. ولتحقيق أهداف الدراسة استخدمت الباحثة مقاربة تحليلية تتغيا تفكيك الظواهر ودراستها دراسة تفصيلية. وقد توصلت الدراسة إلى مجموعة من النتائج أهمها أن القصص القرآني يستدعي الحدث التاريخي من أعماق الزمن، ويجمعه من وجوه الأرض، ليعرضه على الحياة من جديد، في صور العظة والعبرة، وأنه يبعث الحدث التاريخي بعثا جديدا، ويجعله حيا بعد أن كان ميتا، بأسلوب شائق ومضمون فائق. وأوصت الدراسة بمجموعة من التوصيات أهمها: أن النص القرآني يفيض بالعجيب المدهش الذي أوقفه الحق سبحانه على رسله وأنبيائه، هذا العجيب الضارب في الاستغلاق، والمتجاوز لحدود العقل والمعقول، ما هو إلا استعراض لمظاهر القوة الربانية الخارقة لمألوف البشر. الكلمات المفتاحية: القصص القرآني، العجيب، الحدث التاريخي، الحدث المقدس.

Mapping of New Locus in Deafness

Deafness is the most prevalent disorder with 1 in every 500 of world population has disabled hearing loss. Deafness may occur in non-syndromic or syndromic form. Non-syndromic deafness accounts for 70% while remaining 30% accounts for syndromic deafness. Although deafness is prevalent worldwide but determination of causative genes is difficult due to genetic heterogeneity and limited genotype phenotype correlation of deafness related genes. An extensive research on deafness in the last two decades has paved remarkable progress in the detection of deafness related genes. In terms of nonsyndromic recessive hearing loss, the chromosomal locations are presently identified for ~102 loci recessive deafness, elucidating role of 63 genes having causative role in deafness. As nearly 300 genes are involved in hearing cascade a need of further study is the requirement for current study of deafness genetically. The present study was intended to ascertain the molecular basis of deafness expressed at different audiometric levels by making use of linkage analysis as a genetic tool. To attain the objective, Thirty five families with non-syndromic and syndromic phenotype segregating with autosomal recessive mode of inheritance were enrolled, after collection of blood samples DNA was extracted and linkage analysis was done for already reported autosomal recessive deafness loci. In eleven families having syndromic phenotype, four families showed linkage to Usher Syndrome Type 1D, three families showed linkage to Usher Syndrome Type 1F and one family was found linked to Usher Syndrome Type 2C whereas remaining three were found linked to DFNB4/PDS locus. All three Pendred syndrome linked families showed similar pattern of haplotype with DFNB4 Short Tandem Repeats markers. Interestingly on mutational analysis p.Y556C mutation was found in all affected individuals this finding outline this mutation as founder mutation in Punjabi ethnicity of Pakistani population mutation spectrum. In Five families with non- syndromic phenotype, one family was found linked to DFNB49 locus whereas four families were found linked to DFNB8/10, DFNB4, DFNB21 and DFNB7/11 loci. Sequence analysis of these linked families identified two reported mutations one c.1219T>C; p.C407R in TMPRSS3 gene (DFNB8/10) and other c.71G>T; p.R24L in SLC26A4 gene (DFNB4) whereas one novel mutation c.1247_1248delGG; p.G416Dfs*24 in TECTA gene (DFNB21) and a novel compound heterozygous mutation c.1259G>A; p.C420Y and c.1788C>A; p.S596R in TMC1 gene (DFNB7/11) was found. The genome scan of the family PKDF1629 having syndromic phenotype outlines a new recessive deafness locus hint at chromosome 6 position q23.3-25.2 with a critical linkage interval of 19.2Mb. This novel discovery will assist in better understanding of genetics involved in syndrome associated with deafness and will pave way for their diagnosis, treatment and eventually their control.