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Genetic Studies on Stuttering Families

Thesis Info

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Author

Raza, Muhammad Hashim

Program

PhD

Institute

University of the Punjab

City

Lahore

Province

Punjab

Country

Pakistan

Thesis Completing Year

2009

Thesis Completion Status

Completed

Subject

Natural Sciences

Language

English

Link

http://prr.hec.gov.pk/jspui/handle/123456789/685

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676726312741

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Stuttering is a speech disorder characterized by involuntary disruptions of verbal expression. It occurs in about 5 % of pre-school children, where it frequently resolves spontaneously. However, stuttering persists in some individuals and thus about 1 % of the general population remains affected. Although the causes of this disorder remain very poorly understood, there is good evidence for genetic contributions to stuttering. To help elucidate the genetics of stuttering at a molecular level, we studied large families from the African and Pakistani populations in which this disorder occurs. We enrolled 3 large families from the Republic of Cameroon and 6 consanguineous families from Pakistan, all containing multiple members who stutter. Family members were diagnosed using the Stuttering Severity Instrument - 3. We performed a genome wide linkage scan using the Weber 10 microsatellite marker panel on three African families. Single nucleotide polymorphism (SNP) genotyping using the Illumina 6K Chip was also done in the African families, as well as in the five newly ascertained Pakistani families. The program Pedcheck was used to test for proper inheritance within families. One African family was excluded from further analysis due to multiple inheritance inconsistencies. Here we report linkage results from one African family, designated CAMST01 and 5 Pakistani families. No significant linkage was found in family CAMST01 in the initial parametric linkage analysis. Additional non-parametric analysis was performed using the program MERLIN, however CAMST01 was broken into smaller sub-families for analysis to overcome the computational constraints of this program. When this was done, several SNPs on chromosome 15q displayed 2-point LOD scores of more than 3. In this analysis, no LOD scores exceeding 3 were observed at any other loci across the genome. In subsequent multipoint analyses on chromosome 15q, a LOD score exceeding 6 was obtained at this locus. Support for these initial linkage findings was obtained by typing microsatellite markers in this region, which also showed a significant two-point LOD score over 3. In addition, suggestive LOD scores of 2.5 were observed on chromosomes 12 and 6 when SNP linkage analysis was performed on each sub- pedigree alone and in pairs of sub-pedigrees. The region on chromosome 15 that contains markers showing significant LOD scores extends from 15q15.1 to 15q21.3, and is flanked by SNP markers rs1009913 (at map position 42.69 cM) and rs690054 (at map position 51.72 cM). Five consanguineous Pakistani stuttering families (designated PKST families) were also genotyped for 6090 SNPs on the Illumina plateform. Significant linkage, with a LOD score of 3.25 under an autosomal recessive model of inheritance, was observed on chromosome 3q13.13- 3q21.2 in family, PKST77. Analyses under dominant and additive models of inheritance produced no significant evidence for linkage in this family. Further genotyping of microsatellite markers and additional SNPs in this region defined a linkage interval spanning 14.2 Mb. Within this linkage interval, the exons of the candidate gene DRD3 (Dopamine Receptor D3) were sequenced in affected and unaffected individuals, however no novel variation was observed. Our results demonstrate that, in addition to the previously reported linkage to stuttering on chromosome 12 {Riaz, 2005 #96}, additional stuttering genes reside on chromosome 15 and on chromosome 3. Our results also formally prove the existence of genetic heterogeneity in the origins of this disorder.
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محمد سرور

محمد سرور (۱۹۵۷ء ۔پ) اصل نام اور سرورؔ تخلص کرتے ہیں۔ آپ پسرور کے قریب ایک گاؤں پنوانہ میں پیدا ہوئے ۔ آغا وفا ابدالی سرورؔ کے شاعری میں اُستاد تھے۔(۱۱۳۹) آپ کی شاعری میں آغا وفا ابدالی کا اسلوب اور انداز واضح طور پر نظر آتا ہے۔ آپ حقیقت پسند اور رجائی شاعر ہیں۔ رجائیت، قناعت ،امن اور موت سرور کی شاعری کے اہم موضوعات ہیں:

دنیا ہست وبود میں کوئی ضرر نہ ہو

 

انسانِ خواہشات کا پُتلا اگر نہ ہو

 

دست قضا کا کھیل جو نوعِ بشر نہ ہو

 

9افسانہ حیات کبھی مختصر نہ ہو

 

ممکن نہیں کہ طے ہو کبھی جادہ وفا

 

جب تک کسی کی یاد شریکِ سفر نہ ہو

 

پھوٹے گی ایک روز تو امید کی کرن

 

وہ رات کو ن سی ہے کہ جس کی سحر نہ ہو

 (۱۱۴۰)

۱۱۳۹۔’’محافظ‘‘(رسالہ)پسرور ،گورنمنٹ ڈگری کالج ۷۵، ۱۹۷۴ء، ص:۱۸۴

۱۱۴۰۔ایضاً،ص:۱۸۶

 

اسلامی نظام معاشرت میں عدل اجتماعی کی اطلاقی معاشی نوعیت

There is no doubt that the economic system of Islam is stable and compassionate which is based on "Human Amity." This system and its features are utterly beneficial for humanity irrespective of their caste, creed, reigion and religion etc. The specialities of social justice that are applied in the economic field provide such comprehensive and versatile version which makes the utility of the economic system even more pertinent. The humanity can adopt this system to ensure their well-being and welfare.  More importantly, as this system is based on economic justice rather equality, which means, it’s the natural system that depends on human capacities, efforts, innate necessities and abilities. The more a man strives, the more benefit he gets. However, it also sets out the principle of financing those who try hard but stay behind in the economic race. In addition, the fundamental philosophy of this system is to protect the economic rights of the society and provides resources to everyone for equitable economic struggle, with no discrimination. The economic systems around the world suffer from inflation and precariousness, while Social Justice proves to be a remedy to the said scenarios.

Antecedents and Consequences of Organizational Politics: A Study of the Public Sector Organizations of Pakistan

Organizational politics is a common and pervasive phenomenon of occupational life. This is the reason that various approaches have been used to understand and analyze the nature of organizational politics. Literature shows a main stream of researches conducted to examine the political behavior tendency and political skill capitalization among individuals. However, employees usually feel reluctant to report the political activities and tactics exercised for their personal benefits. Therefore, most of the contemporary researches are more focused on analyzing the perception of politics among employees which gives a clear picture of the prevalence of organizational politics. This study was an attempt to examine the perception of politics and its possible causes and effects. It endeavored to identify the reactions regarding organizational politics based on the Hirchsman’s theory of organizational decline also known as Exit, Voice, Loyalty, Neglect (EVLN) Model of Hirchsman’s (1970). The consequences were taped in terms of the intensity of the reactions such as they might start developing turnover intentions (exit), involve in counterproductive behavior (neglect), blow whistle (voice), or show affective commitment (loyalty) with the organization. All these reactions were triggered from extreme to lenient. Variables which have been repeatedly found key predictors to organizational politics in the literature, were selected as antecedents. In this way, participation in decision making, role stressors and machiavellianism were assumed to have influential effects on perceived politics. Perception of politics was also examined to have any mediating role between selected explanatory (participation in decision making, role conflict, role ambiguity and machiavellianism) and criterion variables (affective commitment, counterproductive behavior and turnover intentions). For data collection, questionnaire survey was carried out based on statistically reliable measures adopted from various sources. Only public sector organizations operating within the vicinity of federal territory of Pakistan were approached. Out of 600 floated questionnaires, 424 usable responses of employees working at various levels in different capacities were received. Results showed significant effects of both role stressors i.e. role conflict and role ambiguity as well as of machiavellianism towards perceived politics. Participation in decision making showed although negative but insignificant effects towards organizational politics. Turnover intentions emerged as the strong and statistically significant outcome of flourishing politics followed by affective commitment which had inverse and highly significant relationship with perception of politics. Counterproductive behavior appeared as the third critical upshot of politicized environment. Last of all the results revealed the role of whistle blowing which also had positive and significant relationship with the perception of politics. Mediating of perception of politics was also confirmed between participation in decision making and affective commitment, participation in decision making and turnover intentions, role conflictII and turnover intentions, role conflict and counterproductive behavior, role ambiguity and counterproductive behavior as well as between machiavellianism and counterproductive behavior. Furthermore, partial mediation was found between machiavellianism and turnover intentions. This study provides valuable contribution due to various reasons. Literature shows a dominant contribution of researches and theories from western cultures which are characterized as more individualistic society in nature as compared to eastern culture. Hofstede (1980 & 1993) emphasized the contextual nature of theories to be generalized in different organizations and institutes therefore, this study was an attempt in this regard to know the causes and consequences of the perception of politics from a developing country which is more a collectivist society as specified by Hofstede’s dimensional scale. This study also incorporated role conflict and whistle blowing as antecedent and consequence of perceived politics which have rarely been used in any setting.