Search or add a thesis

Advanced Search (Beta)
Home > Molecular Genetic Analysis of Families With Nystagmus

Molecular Genetic Analysis of Families With Nystagmus

Thesis Info

Access Option

External Link

Author

Muhammad Waqar Arshad

Supervisor

Muhammad Imran Shabbir

Program

PhD

Institute

International Islamic University

City

Islamabad

Province

Islamabad.

Country

Pakistan

Thesis Completing Year

2019

Thesis Completion Status

Completed

Subject

Biotechnology

Language

English

Link

http://prr.hec.gov.pk/jspui/bitstream/123456789/10460/1/Muhammad%20Waqar%20Arshad_Biotech_2019_IIU_PRR.pdf

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676726703789

Asian Research Index Whatsapp Chanel
Asian Research Index Whatsapp Chanel

Join our Whatsapp Channel to get regular updates.

Similar


Genetic studies provide an opportunity to discover the basis of inherited diseases. Identification of new disease-causing variants provides important insights into the molecular genetic basis of an inherited disease. Once the genetic cause of a disorder is established, diagnostic testing may be performed to provide affected families the chance of early diagnosis and treatment intervention, support may be provided via premarital or prenatal counseling, and educational benefits may be provided regarding the causes and nature of the inherited disease. Nystagmus, characterized by abnormal eye movement can be non-syndromic or syndromic (associated most commonly with albinism and OCA). Most commonly observed form of eyes movement is horizontal (to-and-fro), but some other like vertical, rotary, jerk and pendular have also been reported. Idiopathic congenital nystagmus (ICN) refers to a group of abnormal eye movements which can be observed within the first 6 months after birth (early infancy). The worldwide Frequency of nystagmus is unknown but one study revealed 1in 1,500 live births. There is no report available about its prevalence in the Pakistani population. This study involves the genetic investigation of nystagmus and associated syndromes in selected families from different regions of Pakistan. During this work, six (6) novel mutations were uncovered in four genes, associated with non-syndromic (FRMD7) and syndromic (TYR, OCA2, and CNGA3) nystagmus. These mutations are one novel nonsense mutation p.leu133* in the FRMD7 gene in a family (Family-01) with congenital nystagmus, a novel missense mutation p.Trp80Cys in the first coding exon of TYR in two families (Family-02 and 03), two novel heterozygous OCA2 gene mutations p.Arg588Trp and p.Arg137Ilefs*83 in two families (Family-05 & and 06) and a novel missense mutation c.1540G>A (p.D514N) in family-08 along with one reported TYR mutation, three OCA2 heterozygous and one CNGA3 mutation in different families (Family04, Family-07, and Family-09).In order to establish the pathogenic potential of the described variants, different in-silico analyses were performed. Further, normal and mutated protein structures were predicted by expand current knowledge of the molecular causes of nystagmus and associated clinical conditions. More in-depth investigation of the disease mechanisms underlying these conditions may, in turn, translate into providing treatment therapies for affected families in near future.
Loading...
Loading...

Similar Books

Loading...

Similar Chapters

Loading...

Similar News

Loading...

Similar Articles

Loading...

Similar Article Headings

Loading...

شاہ عزالدین پھلواروی ندوی

شاہ عزالدین پھلواروی ندوی
شاہ عزالدین پھلواروی علمی اور دینی حلقوں کے لئے محتاج تعارف نہیں، اپنے مواعظ اور تصانیف کی وجہ سے خاصے معروف ہیں، ابھی چند ہی مہینہ کی تو بات ہے جب انھیں عربی زبان اور اسلامی علوم میں مہارت کی بناء پر حکومت ہند نے اعزاز عطا کیا تھا، اور معارف نے اس سلسلہ میں انھیں مبارکباد دی تھی، کسے معلوم تھا کہ وہ اتنی جلد اس دنیا سے رخصت ہوجائیں گے۔
ادھر کچھ عرصہ سے ان کی صحت مضمحل رہنے لگی تھی، اس لئے انھوں نے سفر ترک کردیئے تھے، لیکن پورنیہ کے کچھ لوگ ان کے بے حد معتقد تھے، ان کی آرزو تھی کہ وہ اپنی تشریف آوری سے انھیں عزت بخشیں اور انھیں اپنے مواعظ سے مستفید فرمائیں، شاہ صاحب نے ناسازی مزاج کا عذر کیا، مگر جب معتقدین کا اصرار جاری رہا تو آمادہ ہوگئے تاکہ ان کے دلوں کو ٹھیس نہ پہنچے، مومن کے دل کو خوش کرنا بڑے ثواب کا باعث ہے، انھیں اس سلسلہ میں آقائے دو جہاںﷺ کی ہدایات یاد تھیں، اس لئے اپنی تکلیف کو نظرانداز کرکے آمادہ سفر ہوگئے، راستہ بخیر گزرا، پورنیہ پہونچ کر بھی ایک آدھ دن طبیعت ٹھیک رہی لیکن پھر ضعف کے ساتھ درد سینہ کی شکایت محسوس ہوتی، جو برابر بڑھتی رہی، جب مقامی دوا دارو سے طبیعت قابو میں نہ آئی، تو لوگ کسی بڑے ڈاکٹر کو بلانے کے لئے شہر گئے، مگر ساری تگ و دو بے کار ثابت ہوئی اور بالآخر وطن سے دور عزیزوں سے مہجوری کے عالم میں جان جان آفریں کے سپرد کردی، نعش پھلواری لائی گئی اور خاندانی قبرستان میں سپردخاک کئے گئے، وہ مجھ سے عمر میں چند سال بڑے تھے، تعلیم میں بھی دو تین درجے آگے تھے، لیکن طلبائے ندوہ کی انجمن الاصلاح میں میرا ان...

الأساليب النبوية في معالجة التطرف الديني

The existing study sheds light on the Shariah principles as laid down by the holy Prophet to eliminate the contemporary scourge of extremism. In fact, this scourge has won international significance which does not belong to a specific society, class, language or place. It is found in different forms in different societies. It is imperative for the formation of rules to curtail and exterminate in the light of the teachings of the Holy Prophet (P.B.U.H.) which could accrue results having long-lasting impacts on religious affairs as Islamic Shariah emphasizes for broadmindedness to discourages its growth. Islamic Shariah has insisted upon avoiding every kind of extremism and fanaticism. It has further scared man from the effect of such extremism. To eliminate extremism, teachings of the Holy Quran and the Holy Prophet (P.B.U.H.) be made common which teach us respect of mankind and protection of life and property. The last sermon of the Holy Prophet (P.B.U.H.), which is the essence of the principles of his (P.B.U.H.) teachings, may be a foundation to provide guidelines for it. The following article is an attempt to streamline this address for the elimination of this scourge

Exploring Higher Education Commissions Quality Assurance Mechanisms for Assuring Quality in Higher Education at Khyber Pakhtunkhwa

The rapid growth of higher education institutes (HEIs) at public and private sectors has raised a key concern for quality among all stakeholders of higher education both nationally and internationally. To tackle this expansion, the Government of Pakistan established the Higher Education Commission (HEC) in 2002. A national Quality Assurance Agency (QAA) was established in 2005, under the jurisdiction of HEC, for the purpose to specifically look after quality issues in Pakistan. The QAA is actively engaged to assure the quality of education for more than one decade, but there are still issues related to quality in higher education. Therefore, this qualitative study was conducted to explore HEC's guided QA mechanisms for assuring the quality of teaching, learning and research at the graduate level, its effectiveness and influencing factors in the context of Khyber Pakhtunkhwa. A qualitative multiple case study approach was employed to achieve the aim of this study. The data were collected from two selected universities in the context of Khyber Pakhtunkhwa with the help of face to face interviews and relevant documents analysis. Through purposive sampling technique, the participants for the study were selected from quality enhancement cell and education department, which included, deputy and assistant director of QEC, Head and focal person of the education department, MPhil and PhD students from the selected universities. Whereas, at HEC, two deputy directors from QAA were also interviewed. The data were analysed using within and cross-case analysis technique with the thematic approach. The study found that various HEC's guided mechanisms are used in the selected public and private-sector University respectively. The purpose of these mechanisms is to assure the quality of teaching, learning and research at the graduate level. Cross-case analysis demonstrated five mechanisms, which were common in both universities. These are: 'establishment of quality enhancement cell' (QEC), 'Self-assessment report' (SAR), 'collection of feedback from stakeholders', 'discouragement of plagiarism in research', 'evaluation of dissertation and publication of paper in PhD'. The findings revealed some of the effectiveness of these mechanisms such as, developing a sense of responsibility and motivation among stakeholders, improving quality of teaching, learning and research by developing quality culture, strengthening the internal quality assurance system, and promoting accountability and acceptance among the stakeholders. Importantly, the study found that the effectiveness and better outcomes of these mechanisms is largely dependent on effective implementation. Moreover, the data also revealed five common factors, which influenced the effective implementation of