پروفیسر ظہیر احمد صدیقی
افسوس ہے کہ ۱۷؍ فروری ۲۰۰۳ء کو پروفیسر ظہیر احمد صدیقی نے داعی اجل کو لبیک کہا، ان کی پیدائش ۱۹۲۹ء میں بدایوں میں ہوئی تھی اور وہ مولانا ضیاء بدایونی سابق صدر شعبہ فارسی کے صاحبزادے تھے، علی گڑھ میں تعلیم مکمل کرنے کے بعد یہیں استاذ ہوئے، مگر جلد ہی دہلی کالج اور پھر دہلی یونیورسٹی کے شعبہ اردو سے وابستہ ہوئے اور پروفیسر اور ڈین کے عہدے پر فائز ہوئے۔ حکیم مومن خاں مومن سے ان کی دلچسپی موروثی تھی، ان کی شخصیت اور فن پر ایک کتاب لکھی تھی، خواجہ میر درد، مولانا حالی اور فانی بدایونی پر بھی کتابیں یادگار چھوڑی ہیں، فکری زاویے اور احساس و ادراک ان کے مجموعہ مضامین ہیں، انجمن ترقی اردو ہند سے ان کا گہرا تعلق تھا، وہ اس کے نائب صدر تھے، اردو کے اچھے استاذ، ادیب، نقاد اور مصنف ہونے کے علاوہ بڑے خلیق اور شریف انسان تھے، ہر شخص سے خلوص و محبت سے پیش آتے تھے، وظیفہ یاب ہونے کے بعد علی گڑھ میں سکونت اختیار کرلی تھی، یہیں کی خاک کا پیوند بھی ہوئے، اﷲ تعالیٰ غریق رحمت کرے اور پس ماندگان کو صبر جمیل عطا کرے، آمین۔ (ضیاء الدین اصلاحی۔ اپریل ۲۰۰۳ء)
Changes in the world require a company to make innovations that are necessary in order to survive the onslaught of other companies' innovations, especially similar companies. A new economic concept that focuses on information and creativity that relies on creative ideas and knowledge from human resources for the main production factors. Creative economynowadays it is increasingly being carried out by the people, especially the younger generation in country because they feel this is a profession that is suitable to be done. Information technology is also needed in the distribution, promotion and sales transaction processes so that the process runs more effectively and efficiently. The potential for the development of this industry is due to several factors, namely the development of information technology as the main factor develops rapidly, access to information centers via the internet is much easier, the social innovation process runs smoothly, each region has a unique local cultural potential and the openness of society to modern culture, there are sources of knowledge such as many campuses that are a source of quality human resources, have high creativity and innovation.
This study was conducted to identify the loci and genes responsible to cause congenital neurological inherited diseases in selective Pashtoon families of Khyber Pakhtunkhwa region of Pakistan. For this purpose, five consanguineous/tribal endogamy families (A-E) suffering from oculocutaneous albinism, usher syndrome, primary microcephaly, and isolated clinical anophthalmia were selected and pedigrees were drawn. Blood samples were collected with informed consent from affected, as well as normal members of these families, and screened for disease associated mutations. These families were analyzed for linkage to all the known loci of oculocutaneous albinism, usher syndrome, primary microcephaly, and isolated clinical anophthalmia, using microsatellite STR markers. Direct sequencing was performed to find out disease associated mutations in the candidate genes. Molecular genetic analysis of family A with oculocutaneous albinism and golden red hair at birth was mapped to MC1R locus on chromosome 16q24.1. A novel mutation c.917G>A of MC1R gene was found to be consisting with OCA2 phenotype in family A. The identification of c.917G>A mutation in Pakistani family and its direct association with OCA2 phenotype is the first demonstration of a mutation of MC1R gene responsible for causing OCA2 phenotype in humans. By genetic linkage analysis, family B with diseased phenotype of Usher syndrome was mapped to USH1F locus on chromosome 10q21.22 (USH1F), which harbors PCDH15 gene. On sequencing of the PCDH15 gene, a novel homozygous c.1304 A>C transversion mutation was identified to be associated with the usher phenotype in the USH1F mapped family. This c.1304 A>C mutation predicts an amino-acid substitution of aspartic acid with an alanine at codon 435 (p.D435A) of PCDH15 protein product.Two families C and D with primary microcephaly were mapped to ASPM gene locus. On mutation screening of ASPM gene by PCR amplification and direct DNA sequencing, a common c.3978G>A transition, was identified in exon 17 of ASPM gene to be responsible for diseased phenotype in both the families. The identified mutation results into the substitution of an amino acid residue at position 1326 from tryptophan to a stop codon (i.e., p.Trp1326Stop). The family E with isolated clinical anophthalmia was mapped to SOX2 gene, which is located at chromosome 3q26.3-q27. On exonic and regulatory regions mutation screening of SOX2 gene, no disease-associated mutation was identified. It shows that another gene responsible for the development of eye might be present at chromosome 3q26.3-q27 and need to be identified and screened for disease- associated mutation in this family. It was concluded that the disease phenotypes of families with oculocutaneous albinism, usher syndrome, primary microcephaly, and isolated clinical anophthalmia were mapped by genetic linkage analysis. The candidate genes (MC1R, PCDH15, ASPM and SOX2) in the mapped regions were screened for disease associated mutations by PCR amplification and direct DNA sequencing. The novel disease- associated mutations were identified in MC1R and PCDH15. The disease associated mutation identified in ASPM gene was also reported in several other families of Pakistani origin with primary microcephaly. However, no disease associated mutation was identified in SOX2 gene, which indicates that possibly another gene might be present in the mapped region for disease phenotype.