ABSTRACT
DMA analysis for the Genetic Mapping of Candidates of Deafness Genes in Pakistani Families. It was a cross sectional study. Department of Biochemistry/Molecular Biology, Quaid I Azam University, Islamabad Pakistan. The Clinical examination, biochemical tests, interpretation of results and preparation of results completed in approximately one year, 2006 2007. Study was conducted on two Pakistani families. Two Pakistani families labeled as family A and B were selected for the study. Family A comprises of three normal and three affected [Deaf] individuals. Family B comprises of two normal and four affected [Deaf] individuals. The blood samples were immediately dispatched to Molecular genetic laboratory, Quaid I Azam University, Islamabad for analysis 2006 2007. In family A, linkage was established to DFNB47 locus on the chromosome 2p25.1-p24.3. In family B, linkage to DFNB1 locus was excluded first by genotyping polymorphic microsatellite markers linked to the candidate region and then by sequencing GJB2 gene. The genetic mapping of candidates of deafness genes brings greater understanding of molecular basis of deafness and would modify the preventive and curative methods
ABSTRACT
To study Homocysteine as a risk factor in coronary heart disease [CHD] patients. Design: Cross sectional observational study. All the cases taken from 1st November 2002 to 31st October 2003 were included in the study from the Department of Cardiology, KRL Hospital Islamabad. Total 93 subjects below the age of 45 were taken. Thirty normal healthy subjects [group I], remaining 63 Myocardial Infarction patients were further divided into two groups, 33 cardiac and non diabetic subjects [group II], 30 cardiac and diabetic subjects [group III]. Biochemical analysis include Serum Cholesterol, Glucose, Lipid Profile and Homocystene levels. The data about total Serum Cholesterol, TG,HDL, Homocystens level was analyzed in all three groups and studied in tabulation, cross tabulation and SPSS was applied for significance. The mean values of homocystene in groupl [normal healthy subjects] is 12.3 +/- 1.46 in group2 [cardiac and non diabatic] 14.3 +/- 4.09 and in groups [cardiac and diabatic] is 15.1 +/- 4.8. Homocystene was found raised in group3 as compared with groupl and group2. High levels of Homocysteine is a risk factor in CHD