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Thesis Info

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Author

Qasim, Muhamamd

Program

PhD

Institute

University of the Punjab

City

Lahore

Province

Punjab

Country

Pakistan

Thesis Completing Year

2011

Thesis Completion Status

Completed

Subject

Molecular Biology

Language

English

Link

http://prr.hec.gov.pk/jspui/bitstream/123456789/11556/1/Muhammad%20Qasim%20PhD%20thesis%20CEMB%202010.pdf

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676727147059

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Hearing Impairment , the partial or absolute inability to perceive sound is one of the most frequent sensory defect with an estimated prevalence of one in thousand (Morton and Nance, 2006). Hearing loss may result from genetic, environmental or an interaction of both factors (Nance, 2003; Morton and Nance, 2006).The phenotype spectrum of hereditary hearing loss can be divided into two groups, syndromic (30%) which is associated with other anomalies and non syndromic form (70%), having hearing loss only (Van Camp, Willems, & Smith, 1997).The present study was aimed to elucidate the molecular basis of hereditary hearing loss. For this purpose, 25 highly inbred families with history of hearing impairment were enrolled from different areas of Pakistan. After written informed consent, blood samples were collected from study participants. DNA was extracted and processed for exclusion studies of known autosomal recessive deafness loci. Deafness in five families showed linkage to DFNB3, DFNB9, DSFNB28, DFNB37 and DFNB67.In the remaining 20 families, phenotype of deafness did not segregate with the markers of any of the known loci.In the second part of the study, genome wide scan was performed on three unlinked families.A novel region DFNB87 segregating with deafness was mapped on chromosome 9 in PKDF882. The critical region of this novel locus mapped to 9q21.31-q22.2 flanked by markers D9S922 (80.31cM) and D9S1836 (96.99CM) spanning a genetic interval of 16.86cM. The newly defined linkage interval does not overlap with any of the previously reported loci on chromosome 9. The linkage interval harbors 69 genes including seven (TLE1, UBQLNI, NTRK2, GOLM1, SPINI, CSK2 and SECISBP2) potential candidate genes on the basis of their expression in both human and mouse inner ear (Peters et al., 2007; UCSC Genome Browser). To narrow down the region, 350 families segregating hereditary hearing impairment, available in CEMB DNA bank, were screened for this locus, but deafness in any family did not segregate with this new region. Localization of this novel locus reveals genetic heterogeneity of Pakistani population and has provided an insight in the molecular basis of deafness, and also is a first step towards the identification of a novel gene that is involved in normal hearing. In the third part of the study, an effort was made to define the mutation spectrum of PCDH15. Eight consanguineous Pakistani families segregating DFNB23/USH1F linked deafness underwent mutational analysis of PCDH15. Sequence variants of PCDH15 can cause syndromic deafness characterized by hearing and vision impairment (type 1 Usher syndrome; USH1F) or non-syndromic deafness (DFNB23) (Ahmed et al., 2003b).Sequence analysis of PCDH15 gene revealed eight different mutations (p.V1240LfsX2, p.R3X, p.R134G, p.L1419FfsX99, p.Y684X, p.S647X, p.D178G and p.E829KfsX12 ) in eight different families of which six were novel.
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دھی دی خوشی

دھی دی خوشی

پرانے زمانے دی گل اے کہ کسے ملک اتے اک بہت رحم دل بادشاہ حکومت کردا سی۔ اپنی رعایا دا خیال رکھدا تے اوہناں نوں ودھ توں ودھ سہولتاں دیون دی کوشش کردا۔ پر ربّ دا کرنا انج ہویا کہ ویاہ دے ویہہ سال بعد وی اوس گھر کوئی اولاد نہ ہوئی۔ ایس کر کے اوہ بہت پریشان رہندا سی۔ اوس کئی حکیماں توں اپنا تے ملکہ دا علاج وی کروایا ربّ نے اوس نوں اولاد دی نعمت عطا نہ کیتی۔

اک دن اوہ اکلا اپنے محل دے بوہے تے کھڑا بالاں نوں کھیڈ دا ویکھ رہیا سی۔ اوہدیاں اکھاں وچ اولاد نہ ہوون پاروں اتھرو آ گئے۔ اچانک بادشاہ نوں کھڑا ویکھ کے اک فقیر اوہدے کول آ گیا تے افسردہ ہوون دی وجہ پچھی۔ بادشاہ نے دسیا کہ بابا میرے کول اولاد نئیں اے۔ بابے نے آکھیا میں کئی دناں دا بھکھا آں۔ توں مینوں روٹی کھلا دے۔ ربّ تینوں اولاد دیوے گا۔ بادشاہ اوس فقیر نوں بڑے ادب نال لے کے محل اندر آیا تے شاہی برتناں وچ اوس نوں کھانا پیش کیتا۔ جان لگیا بادشاہ نے نذرانے دے طور تے کجھ پیسے دے دتے۔ فقیر اولاد دی دُعا دیندے ہوئے چلا گیا۔

ربّ نے فقیر دی دُعا قبول کر لئی تے اک سال بعد ربّ نے بادشاہ نوں اک سوہنی دھی دا تحفہ دتا۔ اوہ تے ملکہ دھی دی آمد تے بہت خوش سن۔ جدوں رعایا نوں شہزادی دا پتہ لگا تاں اوہ وی بہت خوش ہوئی۔ بادشاہ نے سارے ملک وچ خیرات ونڈی۔ ایس توں غریباں نوں کھانا کھاون دا وی انتظام کیتا۔ خود اک وڈی دعوت دا انتظام اپنے شہر وچ کیتا۔ مقررہ تاریخ تے بہت سارے لوک ایس دعوت وچ آئے اوہناں شہزادی نال کپڑے، کھڈو نے تے...

غیر مسلم اقوام کی مشابہت: اصولی ابحاث اور فقہاء کے استنباطات کا عصری انطباق

Islam, as a religion, has a clear distinguished. It gives evident rules, religious obligations, terms and conditions to his followers. Every Muslim should follow these commands. The logic behind the traditions of holy prophet (pbuh) which are in prohibition of resemblance with polytheist and unbelievers is, these are compulsory for a religious person to remain in touch his own culture and civilization. Through the traditions of the holy prophet, we concluded that he (pbuh) strictly disliked any Muslim to adopt and copy of non-Muslim’s deeds which leaving Islamic culture civilization, because all the non-Muslims have their own religious obligations. However, Islam condemn all religious obligations, festivals and conditions that are against Islam. If, a Muslim is doing such deeds against the teaching of Islam, what would be the result of this behavior and attitude according to Islam? In this article, same rules and conditions are discussed to discriminate the differences and its impact between the cultures of Islam and other religions. What would be the result of this behavior and attitude according to Islam? And author presented many principles is this regard so a Muslim may be able to distinguish his religious and as well as his cultural values in Islamic society.

The Impact of the Institution for Educational Developments Visiting Teacher Programme on Teachers of English

I explored the impact of the 1997, English VT programme on English language teachers, in terms of how the programme affected their classroom practices. This study revealed the programme's indirect impact on other teachers through the VTs sharing of their learning experiences with their colleagues. I explored the familiarity of the VT's with language teaching approaches, and I concluded that both the teachers I worked with were generally familiar with four major language teaching approaches. Nighat was familiar with three approaches, but was not clear about the fourth. Shama could not explain the approaches by specific names, but she appeared to be practising these approaches in her classroom. In regard to the four language skills, the study revealed that Nighat was clearly familiar with the term integration, as she immediately used the term integration in talking about her teaching. Shama did not use the term integration, but her practice in the real situation in the classroom suggested that she knew how to teach language through integration. In regard to the component of teaching grammar communicatively, both Nighat and Shama were clearly familiar with the term and this was evident not only by their informal discourse about teaching grammar communicatively, but also by observation. The study also revealed that Nighat and Shama were capable of analysing as well as evaluating the syllabi and textbooks, and of enriching both of these, through the creation of their own worksheets and activity sheets. The teachers also derived benefit from the component of the teaching practice in the VT programme. Their classroom practices revealed that the teachers did benefit from the component of teaching practice and that they continued with the significant events of teaching practice such as, teaching the syllabus communicatively, providing positive feedback to their colleagues and teaching of vocabulary by associating them with ideas. The teachers also benefited from the coverage of assessment. Both Nighat and Shama seemed familiar with alternative assessment practices. Nighat however, could not implement these because of the constraints of board examinations, but she was able to assist her other colleagues in designing assessment sheets. Shama seemed to implement these alternative assessment practices. The study suggested that both the teachers were familiar with the term reflection and reflective teaching. They were also aware of the benefits of writing reflective Dissertation Abstracts MEd III Class of 1999 18 journals. The study also revealed that Nighat and Shama had shared