¦ سرمد صہبائی (۱۹۴۵ء پ) کا اصل نام خواجہ سلیم پال ہے۔ آپ سیالکوٹ میں پیدا ہوئے۔(۱۰۵۴) آپ معروف غزل گو شاعر اثر صہبائی کے بیٹے ہیں۔ آپ نے گورنمنٹ کالج لاہور سے ایم ۔اے انگریزی کیا۔ (۱۰۵۵)گورنمنٹ کالج لاہور کی ادبی سر گرمیوں میں سرمدؔ نمایاں رہے۔’’کالج گزٹ‘‘ اور مجلہ ’’راوی‘‘ کے ایڈیٹر اور سوندھی ٹرانسلیشن سو سائٹی کے صدر بھی رہے۔ گورنمنٹ کالج میں ۱۹۶۲ء میں سٹوڈینٹ یونین کے صدر بھی رہے۔ (۱۰۵۶) اردو ادب میں آپ شاعر کے ساتھ ساتھ ڈرامہ نگار کے طور پر بھی جانے جاتے ہیں۔
آپ کا پہلا شعری مجموعہ’’تیسرے پہر کی دستک‘‘ دارالا شاعت لاہور نے ۱۹۷۰ء میں شائع کیا۔ ’’تیسر ے پہر کی دستک‘‘ ایک طویل اور بین الاقوامی نظم ہے۔ یہ نظم تیسری دنیا کے معاشی ،سماجی ،معاشرتی اور اقتصادی مسائل کی ایک جامع دستاویز ہے۔ اس نظم میں سرمد نے مظلوم اقوام کی مکمل طورپر حمایت کا اعلان کیا ہے۔ سرمد کا دوسرا شعری مجموعہ ‘‘ان کہی باتوں کی تھکن‘‘ غزلوں اور نظموں پر مشتمل ہے۔ یہ مجموعہ دارالاشاعت لاہور نے ۱۹۷۶ء میں شائع کیا۔ ’’پل بھر کا بہشت‘‘ سرمدؔ کا تیسرا شعری مجموعہ ہے۔ جسے الحمرا اسلام آباد نے ۲۰۰۸ء میں شائع کیا۔ سیالکوٹ کی مردم خیز زمین اور گھر کے شاعرانہ ماحول کا اثر تھا کہ سرمد صہبائی کی طبع موزوں کا میلان سکول کی تعلیم کے دوران ہی اشعار کی طرف ہوا اور انھوں نے اپنے سکول کے زمانے میں ہی اشعار لکھنے شروع کر دئیے سرمد صہبائی کی ابتدائی شاعری میں وطن کی محبت کا عنصر نمایاں ہے۔اور وہ نوجوانوں کو وطن سے محبت کرنے اور وطن کی خاطرجان قربان کرنے پر اُبھارتے ہیں۔ ان کی ابتدائی نظموں سے اندازہ ہوتا ہے کہ ابتدا میں ان کا رجحان مذہب اور وطن سے محبت کی طرف تھا۔ ان کی نظمیں ’’بچوں کی دنیا‘‘ اور ’’استقلال‘‘رسالے میں شائع ہوتی...
In the contemporary era of conspiracy theories and practices through media prejudice, focused scholarship and policy oriented publication, Islam in general and Muslims in specific are being tinted as anti-peace and social prosperity entities. Quran as the primary source of Islamic jurisprudence provides principals for every aspect of society including polity one. This study focuses on basic Quranic injections regarding politics and their role in developing peace in contemporary society. The compatibility of Islam and democracy is one of the hottest debates among researchers of political science are also to be focusedon the study. Applyinghermeneuticsmethod and analyzing thought of key Muslim political thinkers and interpreters, this paper concludes that Quranic injections of polity and state are a vibrant source of developing peace and prosperity in historical perspective and same applicable in contemporary society, but hegemony forces feeling fear of Islamic resurgence state that Islam and democracy are incompatible and these Quranic sources are being used for creating panic in the present world.
Genetic defects in the complex processes of embryonic development of the skeleton and its postnatal maintenance result in different types of clinically diverse and genetically heterogeneous skeletal disorders. This presents a diagnostic challenge because of their nonspecific presentation, variable clinical features, highly overlapping phenotypes and lack of recognition as a discrete clinical entity. The research work, presented in this dissertation, describes clinical and molecular investigations of fourteen families (A-N) segregating various forms of skeletal disorders in autosomal recessive pattern. Clinical examinations were performed at local Government hospitals. Blood samples were collected from both affected and unaffected members of the families. Genomic DNA, extracted from the blood samples, was used for microsatellite and SNP based genetic mapping and whole exome and chain termination sequencing. Clinical features, observed in affected members of six families (A-F), were analogous to a condition named as mucopolysaccharidosis. Linkage in these families was established to chromosome 16q24.3 harboring GALNS gene. Sanger sequencing revealed two novels (p.Phe216Ser, p.Glu121Argfs*37) and two previously reported mutations (p.Pro420Arg, p.Arg386Cys) in GALNS gene in the six families. In silico analysis predicted that the missense mutations affect structure and function of the GALNS protein. Clinical and radiographic examinations of affected members in three families (G-I) underscored the manifestations of acromesomelic dysplasia. Microsatellite based genotyping followed by sequence analysis of the NPR2 gene identified three novel missense mutations (p.Arg749Trp, p.Arg601Ser, p.Leu314Arg) in the families. Human genome scan using SNP microarray followed by exome sequencing discovered a potentially casual frameshift mutation (c.594-595insT; p.Gln198Thrfs*21) in a novel gene KIAA0825 in the family J segregating post-axial polydactyly in an autosomal recessive manner. Affected individuals in family K exhibited peculiar clinical features including post axial polydactyly, speech impairment, hearing impairment of variable degree and proportionate short stature. This condition represented mild form of Joubert Abstract Genetic Mapping and Mutation Analysis of Genes Causing Human Hereditary Skeletal Disorders XVIII syndrome. Whole exome sequencing in the family revealed a novel in-frame deletion mutation (c.1115-1117delCCT; p.Ser372del) in the MKS1 gene. In silico analysis revealed that Ser372 residue resides in the “B9” interacting region of the MKS1 protein and inframe mutation (p.Ser372del) causes alteration in the conformation of mutant protein with two extra α helixes. The present study described three families (L-N) with split hand/foot malformations. In two families (L, M), genetic mapping followed by Sanger sequencing detected a novel frameshift mutation (c.300-306dupAGGGCGG; p.Leu103Argfs*52) in the WNT10B gene. In the third family (N), whole exome sequencing accompanied by SNP microarray, identified six nucleotides duplication (c.217-222dupCACCCG; p.His73_Pro74dup) in a novel causative gene HOXD8. The work presented in the dissertation resulted in the following publications. 1. Irfanullah, Saadullah Khan, Imran Ullah, C. Arnoud Meijer, Marlies Laurense Bik, Johan T den Dunnen, Claudia AL Ruivenkamp, Marriët JTV Hoffer, Gijs WE Santen, Wasim Ahmad (2016). Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: expanding the phenotypic spectrum of MKS1-related ciliopathies. American Journal of Medical Genetics Part A 9999A:1–5 2. Irfanullah, Muhammad Umair, Saadullah Khan, Wasim Ahmad (2015). Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families. Annals of Human Genetics 79: 238–244 3. Abdul Aziz, Irfanullah, Saadullah khan, Faridullah khan zimri, Noor Muhammad, Sajid Rashid, Wasim Ahmad (2014). Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. Gene 534: 265–271. 4. Irfanullah, Abdul Nasir, Sarmad Mahmood, Sohail Ahmed, Muhammad Ikram Ullah, Asmat Ullah, Abdul Aziz, Syed Irfan Raza, Khadim Shah, Saadullah Khan, Muhammad Jawad Hassan, Wasim Ahmad (2016). Identification and in silico analysis of GALNS mutations causing Morquio A syndrome in eight consanguineous families. Turkish Journal of Biology: DOI:10.3906/biy-1607-81 Abstract Genetic Mapping and Mutation Analysis of Genes Causing Human Hereditary Skeletal Disorders XIX 5. Asmat Ullah, Ajab Gul, Muhammad Umair, Irfanullah, Abdul Wali, Farooq Ahmad, Abdul Aziz, Wasim Ahmad (2017). Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation. Genetics and Molecular Biology (Submitted) 6. Irfanullah, Muhammad Ansar, Saadullah Khan, Abdul Aziz, Wasim Ahmad. Exome sequencing revealed a novel gene KIAA0825 underlying autosomal recessive postaxial polydactyly (In Preparation). 7. Irfanullah, Saadullah Khan, Maaike Verschuren, Marlies Laurense Bik, Johan T den Dunnen, Claudia AL Ruivenkamp, Marriët JTV Hoffer, Gijs WE Santen, Wasim Ahmad. Human HOXD8 is a novel candidate gene causing autosomal recessive split hand foot malformation in a large Pakistani consanguineous family (In Preparation) 8. Irfanullah, Syed Zohaib Tayyed Gilani, Saadullah Khan, Wasim Ahmad. Homozygous mutations in NPR2 gene underlying Acromesomelic dysplasia in Pakistani families (In preparation)