Search or add a thesis

Advanced Search (Beta)
Home > Mapping of Genes Involved in Human Hereditary Infertility

Mapping of Genes Involved in Human Hereditary Infertility

Thesis Info

Access Option

External Link

Author

Khan, Muhammad Jaseem

Program

PhD

Institute

Khyber Medical University

City

Peshawar

Province

KPK

Country

Pakistan

Thesis Completing Year

2019

Thesis Completion Status

Completed

Subject

Biochemistry

Language

English

Link

http://prr.hec.gov.pk/jspui/bitstream/123456789/12483/1/Muhammad%20Jaseem%20Khan_Biochem_2019_KMU_PRR.pdf

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676726612877

Asian Research Index Whatsapp Chanel
Asian Research Index Whatsapp Chanel

Join our Whatsapp Channel to get regular updates.

Similar


Introduction: The World Health Organization defines infertility as the failure of achieving conception after one year of unprotected intercourse. Worldwide, approximately 15% of couples are affected by infertility and genetic anomalies account for 15-30% of male factor infertility. Nearly 15% of infertile males suffer from azoospermia in the form of obstructive azoospermia or non-obstructive spermatogenic failure. Polycystic Ovary Syndrome (PCOS) was contributing 6-10% infertility in female population. Environmental and genetic factors are involved. However; etiology of PCOS still remains debatable. Primary Ovarian Insufficiency (POI) or Premature Ovarian Failure (POF) affects 1- 2% of women, and is characterized by amenorrhea before the age of 40 years. POI is heritable in up to 30% of individuals. Methodology: The study presented in the dissertation describes clinical and genetic analysis of twelve Pakistani infertile families (A-L) exhibiting azoospermia, POF, PCOS, Y chromosome microdeletions and chromosomal aberrations. These families were collected from different districts of Khyber Pakhtunkhwa Pakistan. Informed consents were taken from all the participants. Results: In this study, we investigated four azoospermic families (A-D) by whole exome sequencing (WES) analysis. WES data analysis of family A with two males with obstructive azoospermia and two fertile members (mother and brother) revealed a novel nonsense variant c.2326C>T (p.R776X) in dominant X-linked ADGRG2. WES data analysis and Sanger sequencing of family B with one azoospermic male, one fertile brother and parents revealed a compound heterozygous variant in AFF4, including c.3319A>G (p.T1107A). In family C one proband and parents samples were subjected for WES analysis, but no pathogenic variants were identified. WES data analysis of family D with one infertile brother, one fertile brother and parents revealed a novel nonsense variant c.646G>A (p.G216R) in X-linked AR. In family E, WES was performed for four family members and seven potential variants were identified but Sanger sequencing failed to confirm any pathogenic variant. Family F has two daughters displaying primary amenorrhea, elevated LH/FSH levels, atrophic uteri, reduced ovarian reserves, and normal 46XX karyotypes. WES analysis of five family members (parents, two affected daughters and one unaffected daughter) revealed a novel frame shift variant (c.709delC, p.Leu237fs) in the luteinizing hormone/choriogonadotropin receptor (LHCGR) gene. PCOS Families G, H and I were investigated for pathogenic variants. SNP microarray and WES analysis failed to identify pathogenic variants in PCOS families. Family J showed Y chromosome microdeletions (AZFc) in two azoospermic brothers. Families K and L exhibited chromosomal aberrations; OX and XXY karyotypes in azoospermic members in families respectively. Conclusion: Four families revealed novel variants as the likely cause of infertility (ADGRG2, nonsense variant (c.2326C>T); AR nonsense variant (c.646G>A); AFF4 compound heterozygous (c.3319A>G); LHCGR, frame-shift variant (c.709delC). WES in four families (three PCOS one POF) families could not identify genetic causes in the coding region. One family exhibited “Y” chromosome microdeletion (AZFc region deletion) and two families were found with chromosomal aberrations (XXY and OX).
Loading...
Loading...

Similar Books

Loading...

Similar Chapters

Loading...

Similar News

Loading...

Similar Articles

Loading...

Similar Article Headings

Loading...

مولانا محمد یوسف

مولانا محمد یوسف صاحب مرحوم
افسوس کہ مولانا محمد یوسف صاحب سابق امیر جماعت اسلامی ہند کا ۴ جولائی کو دن میں ۲بجے رامپور میں انتقال ہوگیا، اناﷲ وانا الیہ راجعون۔
ان کی وفات سے ملک و قوم کے درد مند وہوشمند اور مخلص اور فعال رہنماؤں کی صف اور سونی ہوگئی۔
جماعت اسلامی سے ان کا تعلق بڑا دیرینہ تھا، ۴۸؁ء میں منقسم ہندوستان میں جماعت کی تشکیل نو کے وقت وہ جماعت کے قیم مقرر کیے گئے، ۷۲؁ء تک وہ اس منصب پر فائز رہنے کے بعد امیر جماعت منتخب کیے گئے ۸۰؁ء تک اس پر فائز رہے۔ جماعت کے کئی اور اداروں جیسے بورڈ آف اسلامک پبلیکشنر، دعوت ٹرسٹ اور اشاعت اسلام ٹرسٹ وغیرہ کے بھی وہ چیئرمین تھے، پیرانہ سالی اور عوارض واعذار کی وجہ سے ادھر کئی برسوں سے وہ گوشہ گیر ہوگئے تھے مگر ملی و قومی مسائل سے باخبر اور ان کے متعلق فکر مند رہا کرتے تھے، گو انکے دور امارت میں جماعت کو ابتلا و آزمایش کا سامنا کرنا پڑا تاہم انھوں نے اس کو ترقی و استحکام کی راہ پر گامزن رکھا، ملک کے دوسرے اسلامی اداروں اور اشخاص سے بھی ان کا تعاون و اخلاص کا معاملہ رہا، مسلم مجلس مشاورت، مسلم پرسنل لابورڈ اور دینی تعلیمی کونسل کے وہ رکن رکین تھے، قومی و ملکی مسائل پر ان کی وسعتِ نظر، فراخدلی اور اشتراک عمل کے جذبہ کی قدر کی جاتی تھی، وہ جماعت کے اہم اجتماعات میں دوسرے مکاتب فکر کے افراد کو بھی اظہار رائے کے لیے مدعو کرتے، ان کی تقریریں اور خطبات عام طور سے نہایت متوازن، جامع اور بامقصد ہوتے، گفتار کے علاوہ کردار کے میزان میں بھی وہ پورے اترے، ۷۵؁ء میں ایمرجینسی کے دور ابتلاء میں انھوں نے قید و بند کی صعوبتوں کو برداشت کر کے اور...

Analysis of Consumer Assessment in Small and Medium Enterprises

Raja Abon Makmur Lestari's business has good potential, resulting in considerable business competition. One of the businesses that produce shredded is Small and Medium Enterprises (UKM) Raja Abon Makmur Lestari. This business must apply a consumer-oriented marketing concept. The application of this concept is to determine the marketing mix consisting of product, price, promotion, and place. The purpose of this study was to analyze consumer assessments of the various attributes of shredded products and evaluate the results of the shredded product marketing mix strategy. The method used in this research is descriptive analysis, with the 4P marketing mix approach. The marketing mix strategy evaluation design involves internal parties, namely business owners, and external parties, namely consumers. The results of the discussion show that consumer assessment of products has guaranteed quality, consumer ratings of prices are in accordance with quality, consumer assessments of shredded product distribution are easy to obtain and consumer assessments of promotion by word of mouth are very efficient and easy to get information on social media. The evaluation results of the marketing mix for shredded products are in the range of 101-125. Based on this total value, it can be concluded that all the variables of the marketing mix carried out by the king of shredded and prosperous sustainable have been effective.

The Relationship of Authentic Leadership With Organizational Citizenship Behavior in Higher Education Institutions of Pakistan

Authentic Leadership (AL) is an emerging concept in leadership studies. A plethora of research has indicated a positive relationship of AL with Organizational Citizenship Behavior (OCB) of employees in general organizational contexts. Little studies have examined the relationship of AL with OCB in the context of academic settings of Pakistan. This study evaluates the influence of four dimensions of AL on the employees’ work attitude in relation to OCB in the context of Higher Education Institutions (HEIs). Additionally, the study examined the mediating effect of Organizational Justice (OJ) on the relationship of AL with OCB in the context of HEIs of Khyber Pakhtunkhwa in Pakistan.A sample of nine HEIs was selected for the purpose and data from 279 leaders and 1158 followers were collected through convenience sampling technique. Data concerning the participants profile were also collected through self-developed Biographical Questionnaire. Data were analyzed using Pearson r, ANOVA and regression techniques. The findings of this research study revealed a positive and statistically significant relationship of AL with all the five levels of OCB.The study found that all the four dimensions of OJ fully mediated the relationship of AL with OCB. Furthermore, a positive correlation between AL, OCB and OJ were found. The employees’ demographic characteristics showed statistically significant effect on OCB. Moreover, a model comprising different variables was tested using bootstrapping tests. The findings offer implications regarding how AL enhances the followers’ OCB and how the OJ strengthens the relationship of AL with OCB. HEIs should, therefore, judiciously design and implement performance management system with fair outcomes, procedures and treatment of employees. The present study explored a new model encompassing AL, OCB, and OJ wherein AL and OJ acted as predictors of OCB. The model confirmed that AL is the predictor of OCB and OJ fully mediates the relationship of AL with OCB in the context of HEIs in Khyber Pakhtunkhwa. The study recommends that future research should test and assess this model in other contexts.