Search or add a thesis

Advanced Search (Beta)
Home > Gene Identification in Mendelian Disorders Using Str Mapping, Snp Genotyping and Whole-Exome Sequencing

Gene Identification in Mendelian Disorders Using Str Mapping, Snp Genotyping and Whole-Exome Sequencing

Thesis Info

Access Option

External Link

Author

Naeem Khan, Tahir

Program

PhD

Institute

Pakistan Institute of Engineering and Applied Sciences

City

Islamabad

Province

Pakistan

Country

Pakistan

Thesis Completing Year

2014

Thesis Completion Status

Completed

Subject

Applied Sciences

Language

English

Link

http://prr.hec.gov.pk/jspui/bitstream/123456789/2698/1/2893S.pdf

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676726254465

Asian Research Index Whatsapp Chanel
Asian Research Index Whatsapp Chanel

Join our Whatsapp Channel to get regular updates.

Similar


Recent data from 1000 Genomes Project suggest that human genome has large number of variations. While some of the variations in human genome are tolerated others result in pathogenic consequences. Consanguinity increases the probability of inheriting the variants in homozygous state in children that result in abnormal phenotype. Familial disorders are relatively prevalent in Pakistani population where consanguineous marriages are common practice. In this study, 12 inbred families belonging to various regions of Pakistan and inheriting different genetic disorders were sampled for molecular genetics analysis. Three different mutant gene identification strategies namely STR mapping, SNP array and whole-exome sequencing were used, either separately or complementary to each other. Linkage analysis of candidate genes/loci was done by STR markers and SNP genotyping. Families linked to the candidate genes were Sanger sequenced to identify causal mutations. Families excluded to reported loci were subjected to whole exome sequencing and if required to CytoScan® HD array for copy number variation detection. A series of filtering steps were followed to narrow the spectrum of variations down to a single functional variant among the several thousand variations. This study reports on three novel and six reported mutations responsible for causing familial diseases. A novel mutation, each in a family with hyponychia, Cenani-Lenz syndrome and spastic paraplegia 3A was found. Additionally, evidence were found for polymorphic initiation codon (p:M1I) in RSPO4 gene and for autosomal recessive inheritance in spastic paraplegia 3A. Whole-exome sequencing technology was successfully applied for gene identification in autosomal recessive and autosomal dominant disorders. Specific diagnosis of; spastic paraplegia 3A, pseudoachondroplasia, generalized lipodystrophy using variants derived by exome sequencing suggest that it has a dual role of mutation identification in heterogeneous disorders as well as a diagnostic tool in clinically overlapping phenotypes. The findings of current investigations will set the basis for establishing carrier screening and prenatal diagnosis to control the disease as well as for the better understanding of disease pathways.
Loading...
Loading...

Similar Books

Loading...

Similar Chapters

Loading...

Similar News

Loading...

Similar Articles

Loading...

Similar Article Headings

Loading...

تُو تو بالکل پتھر سا ہے

تُو تو بالکل پتھّر سا ہے
پر مجھ کو اچّھا لگتا ہے

تیرے شہر میں کیا رکھا ہے
دل مجھ کو پھِر لے آیا ہے

ساری گلیاں گھُوم چُکا ہوں
تیری گلی سے ڈر لگتا ہے

اب ان سڑکوں پر تنہا ہوں
جن پر کبھی تو ساتھ چلا ہے

چاند کو دیکھ کے مجھ کو ہمیشہ
یاد ترا چہرا آتا ہے

چاند بادلوں میں چُھپ چُھپ کر
مجھ کو تنگ بہت کرتا ہے

پانی جس کو سمجھ رہا تھا
وہ تو نظر کا اِک دھوکا ہے

تُجھ کو میں کب بھول سکا ہوں
تُو تو مجھ کو بھول چکا ہے

یادیں بھی کیا چیز ہیں صادق
حال بُرا دِل کا ہوتا ہے

Use of Intra Uterine Devices in Family Planning

Contraception is generally divided into two types, namely the Long Term Contraception Method (MKJP) and the Non Long Term Contraception Method (Non MKJP). Side effects of using injection contraceptives; There is a change in menstrual pattern, such as irregularity, bleeding, spotting, or bleeding for up to 10 days. Intra Uterine Devices (IUD) are long-term contraceptives that are inserted into the uterus. The advantages of this contraception include high effectiveness of about 0.6 to 0.8 pregnancies per 100 women, failure in 125 to 170 pregnancies. There are several disadvantages to its use, such as bleeding (spotting) between menstruation, excessive menstrual pain, longer menstrual periods, and heavy bleeding at the time of menstruation.

Relationship Between the Quetelet’S Index, Homa-Ir Index and Prostate Size in Patients With Benign Prostatic Hyperplasia at St. Mary’S Hospital In

Introduction: Benign prostatic hyperplasia is a highly prevalent disease and is considered an inevitable correlate of ageing. Several theories have been advanced in a bid to explain its pathogenesis, the most popular ones relating to sex steroid hormones (1). Currently facets of the metabolic syndrome of which two principal components are insulin resistance and high BMI have been postulated to be related to growth of the prostate (2). Insulin resistance is assessed by the HOMA-IR index. Some studies have demonstrated an association between these indices and the size of the prostate (3). While others have not (4). We set out to investigate this association. Objectives: The aim of this study was to assess the relationship between the Quetelet‘s Index, HOMA-IR index and the prostate volume amongst patients scheduled for surgery for prostate enlargement. Methods: Consecutive male patients attending the urology clinic were recruited into the study. Their anthropometric measures were taken and Quetelet‘s index was derived from the same. Prostate volumes were determined by transrectal ultrasonography (TRUS). Serum samples were taken, after an overnight fast and assayed for insulin and glucose levels. Tissue specimens were examined at the Aga khan University Hospital Histopathology labs. Prostate volume was considered the main outcome. Regression modeling was employed to assess the relationship between the BMI and prostate volume and that between the HOMAIR index and the prostate volume. Results: A total of 130 patients fulfilled the inclusion criteria. The mean age was 69.8 (SD 9.152). The mean BMI was 22.66 (SD4.01), while the mean prostate volume was 81.2cc (SD38.98). The age of the patients was associated with the prostate volume and according to our model there was an increase in the mean prostate volume with age. In addition, the Quetelet‘s index was also associated with the prostate volume, explaining 23% of the variability in prostate volume (R2=0.229, β = 0.475, p<0.001). We also demonstrated a relationship between the HOMA-IR Index and the volume of the prostate. Conclusion: The Quetelet‘s Index and the HOMA-IR Index are positively associated with the prostate volume and are potential modifiable risk factors for Benign Prostatic Hyperplasia.