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Home > Gene Mapping and Molecular Analysis of Some Inherited Skin Disorders in Consanguineous Pakistani Families

Gene Mapping and Molecular Analysis of Some Inherited Skin Disorders in Consanguineous Pakistani Families

Thesis Info

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Author

Rasool, Mahmood

Program

PhD

Institute

Quaid-I-Azam University

City

Islamabad

Province

Islamabad.

Country

Pakistan

Thesis Completing Year

2008

Thesis Completion Status

Completed

Subject

Applied Sciences

Language

English

Link

http://prr.hec.gov.pk/jspui/handle/123456789/1012

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676726254825

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In recent years, an enormous progress has been made in human genetics which has resulted in the identification of genes and gene variants associated with inherited single-gene disorders (i.e. Mendelian traits) in man. Techniques have been developed for the identification, functional analysis and manipulation of normal and mutant genes. Many of these achievements are very important in medicine and they have led to an improved diagnosis as well as understanding of the basic mechanisms behind different traits. Efficient identification of novel genes and gene variants behind single gene traits benefit from consanguineous marriages and large family sizes. For these reasons, Pakistan is a suitable country for the study of Mendelian disorders. The aim of this thesis has been to identify genes and allele variants involved in the pathogenesis of some inherited disorders of the ectoderm and its appendages (skin, nails, teeth, sweat glands and hair). Generalized anhidrosis (GA) is a congenital or acquired disease characterized by heat intolerance and loss of sweating. The condition is most often recognized in systemic diseases such as ectodermal dysplasia, diabetes mellitus or polyneuropathies. Isolated congenital generalized anhidrosis (CGA) is a chronic and very rare condition with a stationary clinical picture over time. Two large consanguineous families with isolated congenital generalized anhidrosis (CGA) were investigated. Skin biopsies from affected individuals revealed altered eccrine sweat gland morphology with hypoplastic excretory ducts and disorganized structure of secretory cells. Thermoregulatory test at 45°C disclosed inability to down regulate body temperature in affected individuals when compared to controls. In family A the CGA locus was mapped to chromosomal region 12p12.1-p11.2 and a maximum two point LOD score (Zmax) of 3.42 was obtained at marker locus D12S68 (Ө=0.00). The candidate gene region was restricted to 5.8 Mb using a set of highly polymorphic markers. The flanking markers spans 23 genes and expressed sequence tags. In family B the CGA locus was mapped to chromosomal region 13q32.1 and a maximum two point LOD score (Zmax) of 5.04 was obtained at marker locus D13S1280 (Ө=0.00). The candidate gene region spans 1.5 Mb of DNA and five genes.
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معاشرے کی تعمیرو ترقی میں طلباء کا کردار

معاشرے کی تعمیر وترقی میں طلباء کا کردار
نحمدہ ونصلی علی رسولہ الکریم امّا بعد فاعوذ بااللہ من الشیطن الرجیم
بسم اللہ الرحمن الرحیم
معزز سامعین اور میرے ہم مکتب شاہینو!آج مجھے جس موضوع پر لب کشائی کرنی ہے وہ ہے:’’معاشرے کی تعمیر وترقی میں طلباء کا کردار ‘‘
جنابِ صدر!
طالب علم معاشرے کا ایک اہم جزو ہے، ایک اہم حصہ ہے، معاشرے کی تسبیح کا ایک اہم دانہ ہے، ایک اہم شمارہے، طالب علم کا وجود گھر کے لیے، خاندان کے لیے، معاشرے کے لیے، ملک وقوم کے لیے ریڑھ کی ہڈی کی حیثیت رکھتا ہے۔ وہ معاشرہ جس میں طالب علم کا کوئی کردار نہ ہو وہ حقیقت میں معاشرہ کہلانے کا حق دار نہیں ہے۔
صاحبِ صدر!
ایک ہونہار طالب علم جب علمی درسگاہ کے زیور سے مزیّن اور مرصعّ ہو کر خانگی ، معاشرتی، سیاسی اور قومی ماحول میں قدم رکھتا ہے تو اس کا وجود پورے ماحول کو متاثر کرتا ہے، اس کی گفتگو، اس کی نشست و برخاست ، اس کا قیام وقعود معیاری ہوتا ہے، اس کا اندازِ جہاں بانی منفرد اور یکتا ہوتا ہے، اس نے دورانِ تدریس صحت مند اور مفید نصاب کے اوراق اسود کی ورق گردانی کی ہوتی ہے۔
جنابِ صدر!
اس نے اگر منافقت کا باب پڑھا ہوتا ہے تو ریاکاری اور منافقت سے دور رہ کراپنی زندگی گزارتا ہے ،گل سر سبنر کی طرح مضافاتی علاقے کو معطر رکھتا ہے، جو تعلیمی ادارے میں پڑھتا ہے اس پر من وعن عمل کرتا ہے، اس کی زندگی عوام النّاس کے لیے ایک نعمت غیر مترقبہ ہوتی ہے۔
معزز سامعین!
ایک ذی فہم و فراست اور ذی شعور طالب علم ،علم و دانش کے نشتر سے معاشرے کے وجود سے جہالت، نفرت، بغض، حسد، ریا کاری ،نمود ونمائش، اقرباء پروری...

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