Molecular Investigation Of Mental Retardation Locus (Mrti)/Gene Prss12 By Linkage Analysis (Record no. 2889)

000 -LEADER
fixed length control field 03817nam a2200193Ia 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20151001144016.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 150525s2010 xx 000 0 und d
041 ## - LANGUAGE CODE
Language code of text/sound track or separate title eng
082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER
Classification number 1171,T
100 ## - MAIN ENTRY--AUTHOR NAME
Personal name Zafar Ali
110 ## - MAIN ENTRY--CORPORATE NAME
Location of meeting Prof.Dr.Masroor Elahi Babar
245 ## - TITLE STATEMENT
Title Molecular Investigation Of Mental Retardation Locus (Mrti)/Gene Prss12 By Linkage Analysis
260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT)
Year of publication 2010
502 ## - DISSERTATION NOTE
Dissertation 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.
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical Term Institute of Biochemistry & Biotechnology
700 ## - ADDED ENTRY--PERSONAL NAME
Personal name Dr. Aftab
700 ## - ADDED ENTRY--PERSONAL NAME
Personal name Mr. Muhammad Asif
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Koha item type Thesis
Holdings
Damaged status Collection code Permanent Location Current Location Shelving location Date acquired Full call number Accession Number Koha item type
  Veterinary Science UVAS Library UVAS Library Thesis Section 2015-05-28 1171,T 1171,T Thesis


Implemented and Maintained by UVAS Library.
For any Suggestions/Query Contact to library or Email:rehana.kousar@uvas.edu.pk Phone:+91 99239068
Website/OPAC best viewed in Mozilla Browser in 1366X768 Resolution.