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1. Molecular Investigation Of Mental Retardation Locus (Mrti)/Gene Prss12 By Linkage Analysis

by Zafar Ali | Prof.Dr.Masroor Elahi Babar | Dr. Aftab | Mr. Muhammad Asif.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2010Dissertation note: Mental retardation (MR) is a condition in which a person having an intelligence quotient (IQ) lowers than 70. It is also associated with a deficit in adaptive behavior such as communication and daily living skills. Mental retardation is either non-syndromic or syndromic. It is one of the most common genetic disorders and it affects about 1-3% of the human population, with a ratio of males higher than females. The present study was can-ied out to determine the prevalence of families having mental retardation in Pakistani population. In the present study, 7 MR families with three or more affected individuals with MR were enrolled. Family history was taken and pedigree was made personally by visiting the families. The blood samples were collected from the enrolled families. Then DNA was extracted from the blood samples collected from these families by standard inorganic protocol. After isolation of DNA from blood samples, 3 STR markers (D4S191, D4S2392 and D4S3024) in vicinity of mental retardation (MR) locus (MRT1)/gene PRSS12 were amplified on each sample of each family by PCR. The amplified PCR product was first checked on agarose gel and then genotyping analysis (linkage analysis) was performed on non denaturing polyacrylamide gel (PAGE). After polyacrylamide gel electrophoresis, picture of the gel was taken and alleles were read manually with larger allele donated by 2 and smaller by 1. After that haplotype was constructed to determined the pattern of inheritance among the affected and normal individuals of each family under study and also to determined that a family was linked or unlinked to mental retardation locus (MRTI)/gene PRSS12. None of the family was linked to mental retardation locus/gene PRSS12. The families which remain unlinked to the reported loci during screening signifies extreme genetic heterogeneity of MR which is not surprising because about 50% of human protein coding genes are expressed in the brain and it provides an excellent resource material for mapping of the new genes which will shed light on the complex pathways involved in the development of learning and memory in those population. The pedigree of each family in the present study showed that most of the marriages are cousin marriages; therefore this study may play a role in creating awareness about the effect of cousin marriages that is the first step towards decreasing socio-economic burden of the country by genetic counseling and also to prevent mental retardation in Pakistan due to inbreeding. Mental retardation locus (MRT1)/gene PRSS12 was studied for linkage analysis in seven families from different areas of District Swat and Peshawar of Khyber Pakhtunkhwa province of Pakistan. None Out of seven families was linked to mental retardation locus (MRT1 )/gene PRSS 12. All the seven families remain unlinked to this locus. It is concluded that Mental retardation is a complex genetic disorder and needs further studies to identify the already known locus or to explore novel loci through genome wide scan responsible for mental retardation in these population. This will provide opportunities of genetic counseling to these populations and will ultimately result in prevention of mental retardation in Pakistani population. Availability: Items available for loan: UVAS Library [Call number: 1171,T] (1).

2. The Study Of Gene Gjb2/Dfnb1 Causing Deafness In Humans By Linkage Analysis From District Peshawar

by Noor Badshah | Prof.Dr.Masroor Elahi Babar | Dr. Aftab | Mr. Muhammad Asif.

Material type: book Book; Format: print ; Literary form: not fiction Publisher: 2010Dissertation note: Hearing impairment is the partial or complete inability to hear that leads to compromise the development of normal language skills. Among all the sensory impairments in humans, hearing impairment is the most common. It is estimated that at least 50% of the cases are due to genetic factors. Hereditary hearing loss may be syndromic or non-syndromic; about 30% of deafness cases are syndromic, while 70% is non-syndromic. It is estimated that the prevalence of profound bilateral hearing loss is 1.6 per 1000 in Pakistan and 70% of hearing loss arises in consanguineous families. The main pattern of inheritance of deafness in Pakistani population is autosomal recessive and to date more than 145 loci and 26 genes have been identified for non-syndromic recessive deafness. More than 400 disorders associated with hearing loss shows extreme genetic heterogeneity and complexity of the mammalian inner ear. As more genes are identified, the elucidation of the function of the proteins that these genes encode contributes greatly to the understanding of cochlear mechanisms and their role in disease causation. The gene involved, GJB2, encodes the connexin26 molecule. Connexin26 is a component of gap junctions, the links that allow small molecules to pass from one cell to the next, and this protein is found in several places in the body, including the epithelial supporting cells surrounding the sensory ear cells of the cochlea.The sensory ear cells of the cochlea allow potassium ions to pass through their upper surface during normal reception of sound, and these potassium ions must be recycled through the base of the ear cells and the supporting cells and fibrocytes back into the high-potassium endolymph that bathes the tops of the ear cells. The aim of this study was Linkage analysis for DFNB1 locus involved in causing hereditary deafness in families from Khyber Pukhtunkhwa. A total of 10 families were enrolled from different areas of Khyber Pukhtunkhwa province. I have studied 8 families of these 10 (i.e.) family no. 2, 3, 4, 5, 6, 8, 9 and 10. The families have at least three affected individuals. All the families showed recessive mode of inheritance. For linkage analysis studies for DFNB1 locus, three STR markers D13S175, D13S292, and D13S787 were genotyped using Polyacrylamide gel electrophoresis (PAGE) and haplotypes were constructed to determined, linkage with DFNB1 locus. From a total of 8 families, a single family was linked to DFNB1 locus. The DFNB1 locus is the first non-syndromic deafness locus mapped to chromosome 13q12. Availability: Items available for loan: UVAS Library [Call number: 1191,T] (1).

3. Designing Of Oligo Pool All For The Selection Of Superior Dairy Animals In Pakistan

by Kamran Abbas | Prof. Dr. Masroor Ellahi Babar | Dr. Aftab | Mr. Muhammad Asif.

Material type: book Book; Format: print Publisher: 2011Dissertation note: Livestock has an important role in an agriculture based country like Pakistan with a large number of dairy animals. However the average daily milk yield of dairy animals is very low. There is need to improve milk yield by the selection of superior dairy animals using latest genomic selection procedures. Selection of superior animals on the basis of genetic markers has a tremendous potential for breed improvement across the globe. Substantial advances have been made over the past decades through the application of molecular genetics used in industry programs for several decades and is growing, the extent of use has not lived up to initial expectations. Most applications to date have been integrated in existing programs on temporary basis. Among various molecular markers the Single Nucleotide Polymorphism (SNP) is one of the major genetic marker used worldwide. Through SNP genotyping selection of phenotypic superior animals can be done. There are many techniques used for SNP genotyping but the most advanced technique is Veracode GoldenGate Assay by Illumina. Illumina's VeraCode technology with the BeadXpress (BX) Reader is ideal for high-throughput small to mid-scale genotyping studies and SNP validation. BX leverages the power of digital holographic codes and the robust GoldenGate Genotyping Assay to provide a detection method for multiplex assays requiring high precision, accuracy, and speed. A custom assay of 48, 96, 144,192 and up to 384-SNPs OPA (Oligos Pool All) is designed using Illumina's Assay Design Tool and manufactured by Illumina. As a first step for designing of Veracode GoldenGate Assay the development of Oligo Pool All (OPA) is necessary. The OPA was designed by using the genes for milk production, growth, fertility, health and other performance traits. The SNP's in these genes was searched from different gene banks and after proper arrangement the files were sent to Illumina for scoring. After scoring the OPA was finalized for the Veracode GoldenGate Assay for the selection of superior dairy animals in the country using the highly robust BeadXpress technology. The development of OPA for the selection of superior dairy animals was done for the very first of its kind based on modern technology, Veracode GoldenGate Assay in Pakistan. This will greatly help the livestock and dairy development departments, livestock owners, breeders, forensic agencies and researchers to use this unique panel of molecular markers for the selection of superior animals on the basis of marker assisted selection. Availability: Items available for loan: UVAS Library [Call number: 1528,T] (1).

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