حاصل تحقیق
زبان اللہ تعالیٰ کی عطا کردہ نعمتوں میں سب سے بڑی اور عظیم نعمت ہے۔ اس پر سنجیدگی سے غورکرنے کا سلسلہ روزِ اول سے ہی جاری ہے۔ قبل مسیح کےمفکروں اور دانش وروں نے بھی اس پر بہت غور وخوض کیا اور اس کے متعلق مختلف نظریات قائم کیے، اس سلسلے میں مختلف کتب موجود ہیں جو زبان کے متعلق قبل مسیح کے نظریات سے بھری پڑی ہیں۔
اس کے بعد آنے والے مختلف مفکرین نے اس پر تحقیقی کام جاری رکھا۔ اور زبان کے متعلق اپنے نظریات پیش کرتے رہے۔ ان نظریات سے مختلف ماہرین لسانیات نے لسانیات کےمختلف شعبے تخلیق کیے اور ہر شعبے میں خاطر خواہ کام کیا۔
انیسویں صدی میں لسانیات پر باقاعدہ تحقیقی ادارے بننے شروع ہوئے،مغرب نے اس سلسلے میں بہت کام کیا، لیکن یہ بات عیاں ہے کہ بیسویں صدی میں ادب پر جتنا کام ہوا وہ گزشتہ ایک صدی تک نہ ہو سکا، بلاشبہ اس صدی کو ادب کی صدی کہا جاتا ہے اس میں باقی شعبوں کے ساتھ ساتھ لسانیات جیسے اہم مضمون پر بھی بہت زیادہ خامہ فرسائی کی گئی۔
زبان میں لسانیات کے موضوع کے حوالے سے اگر دیکھا جائے تو یہ مختلف عناوین اور اس کےمسائل ومباحث کو سمیٹے ہوئےہے۔ جہاں اس کا تعلق نطق انسانی سے ہے وہاں زبان کے قواعد اور لغتیات پر بھی بحث کرتی ہے۔ اگر لسانیات کی صرف نطق انسانی کے حوالے سے بات کی جائے تو یہ بات عیاں ہے کہ لسانیات کا کسی مخصوص گروہِ انسانی سے تعلق نہیں بلکہ یہ دنیا کی تمام زبانوں کے مسائل کو زیر بحث لاتی ہے۔ مختلف ماہرین لسانیات نے اس کی تعریف مختلف حوالوں سے کی ہے۔ ان میں چند ایک درج ذیل ہیں:
’’زبان کا سائنسی مطالعہ لسانیات کہلاتا ہے۔
Language is the identity of a nation, a region and a territory, which serves as a link between the people of that nation and territory. On the other hand, it causes unity, uniformity, brotherhood and love. That’s why study of language has been the subject of conversation of scholars and researchers from the very first day. Wherever human beings exist on this earth planet, there are languages with their noun, verb, preposition and its sub kinds i. E. Present, past and future tense, subject, Object and pronoun. A complete structure of language is founded upon which the learned men have made valuable contribution in various decades. Survival and development of these languages owe to the efforts of these learned people. The current research study is also an effort in which discussion has been made with reference to Arabic language. Arabic is the fourth largest language of the world. It is spoken and understood in Saudi Arabia, U. A. E, Egypt, Syria, Iraq, Iran, Jordon and Morocco. 3 The Universities all over the world, particularly those Universities which have leading role in the present time, not only adopt Arabic Language as medium of instruction but are not second to the Arabs in respect of Arabic Language. The present article discusses the one aspect of this historical grand language namely “derivation”. What is the source of derivation in the Arabic Language? How words are formed and how they are refined. What are different theories regarding derivation. This article is an effort to explain all these aspects
The research work, presented in the dissertation, described characterization of eighteen families segregating various types of isolated and syndromic skin disorders. Four of the families showed clinical features of congenital ichthyosis, two junctional epidermolysis bullosa, four hair loss disorders, two isolated spoon shaped nail/koilonychias, two hypohidrotic ectodermal dysplasia (HED), one each with ectodermal dysplasia syndactyly syndrome, hypotrichosis, palmoplantar keratoderma and nail dysplasia, hypotrichosis-anonychia-post-axial polydactyly and hair-nailteeth-skin type ectodermal dysplasia. Clinical investigation of affected members in each family was carried out with the help of medical officers/dermatologists working at local government and private hospitals. Based on the clinical spectrum developed in each family, genetic characterization was performed by typing microsatellite and SNP markers. Further, disease causing variants were searched using exome and /or Sanger sequencing. In one case effect of the mutation was validated through exon trapping. Bioinformatics tools and protein modeling studies were performed where possible. In addition to associating skin phenotypes with three novel genes, seven novels and six known mutations were identified in families segregating other skin-related clinical features. Two novel missense mutations p.Asp34Glu and p.Gly439Ser were identified in the PNPLA1 and ST14 gene, respectively causing two different types of ichthyosis. In a related phenotype called junctional epidermolysis bullosa, observed in two other families, sequence analysis revealed a novel non-sense (p.Ser3298*) and a previously reported missense variant (p.Arg1303Gln) in the LAMA3 and COL17A1 gene, respectively. Four other novel variants including p.Gln230*, p.Trp485*, p.Gln417* and p.Leu81Pro were detected in the genes LIPH, CDH3, EDAR and PVRL4, respectively. The mutations in the LIPH and CDH3 produced hair loss disorders, in the EDAR results in hypohidrotic ectodermal dysplasia (HED) and in the PVRL4 results in ectodermal dysplasia cutaneous syndactyly syndrome. Previously reported sequence variants including a missense (p.Pro498Leu) in the DSP gene causing hypotrichosis-palmoplantar keratoderma-nail dysplasia, a missense (p.Asp63Val) in the LPAR6 gene causing hypotrichosis, a missense (p.Gly382Ser) in the EDAR gene causing HED, and a non-sense (p.Arg110*) in the LIPH and a missense (p.Met1Ileu) in the RSPO4 producing hypotrichosis-nail dysplasia (anonychia) -post-axial polydactyly were identified as well.