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ABSTRACT: Bovine leukocyte adhesion deficiency (BLAD) is an autosomal recessive disease. Affected animals die because of extreme susceptibility to infections caused by the lack of a membrane glycoprotein called the leukocyte integrin beta-2 subunit of CD18. The present study was planned to standardize a technique for the diagnosis of BLAD and to get an estimation of BLAD allele in the Pakistani cattle population. The study was performed on 700 animals including Holstein-Friesian (HF) (n=280), Friesian-Sahiwal (FS) (n=120) Sahiwal (n=100) cows and HF calves (n=59) from Government as well as private farms. Similarly 141 bulls of Sahiwal (n=100), HF (n=18) and FS (n=23) from the Semen Production Unit Qadirabad and Kherimorat were also sampled. The identification of normal, carrier and affected animals were made by the PCR-RFLP method. No animal was found homozygous for BLAD while 10 animals including HF calve (n=1), FS bull (n=1), HF (n=6) and FS (n=2) cows were BLAD carrier. The Hardy-Weinberg frequency of the mutant allele in HF and FS population in Pakistan was calculated to 0.01. Thus there is a need of regular screening of the bulls used for artificial insemination to avoid the risk of spreading BLAD in the cattle population of Pakistan.
Hereditas 06/2009; 146(2):74-8. · 0.79 Impact Factor
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Farooq Muhammad,
Shahid Mahmood Baig,
Lars Hansen,
Muhammad Sajid Hussain,
Iram Anjum Inayat,
Muhammad Aslam, Javed Anver Qureshi,
Muhammad Toilat,
Elisabeth Kirst,
Muhammad Wajid,
Peter Nürnberg,
Hans Eiberg,
Niels Tommerup,
Klaus W Kjaer
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ABSTRACT: Autosomal recessive primary microcephaly (MCPH) is characterized by reduced head circumference (<or=4 SD) and mental retardation without any other neurological manifestation. Of the four identified MCPH genes, homozygous truncating mutations in ASPM (MCPH5) account for >50% of all reported families. In spite of the high frequency of MCPH in Pakistan only one case of compound heterozygosity for mutations in ASPM has been reported yet. In this large MCPH study we ascertained 37 families including 319 persons (140 patients). Haplotype analysis of eight STS markers suggested linkage by homozygosity in 20 families, and re-analysis of single sib ships in the remaining families demonstrated possible compound heterozygosity in two families. Direct sequencing indeed confirmed compound heterozygosity in two and homozygous mutations in 20 families, respectively, showing that up to 10% of families with MCPH caused by ASPM are compound heterozygous. In total we identified 16 different nonsense or frameshift mutations of which 12 were novel thereby increasing the number of mutations in ASPM significantly from 35 to 47. We found no correlation between the severity of the condition and the site of truncation. We suggest that the high frequency of compound heterozygosity observed in this study is taken into consideration as part of future genetic testing and counseling in Pakistani MCPH families.
American Journal of Medical Genetics Part A 04/2009; 149A(5):926-30. · 2.39 Impact Factor
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ABSTRACT: To see the prevalence of Hepatitis C virus (HCV) and its genotypes in general population of the locality and to evaluate the importance of reverse transcriptase-polymerase chain reaction (RT-PCR) test over HCV antibody test in early diagnosis of HCV infection.
The study took place at the National Institute for Biotechnology and Genetic Engineering (NIBGE) and we collected the samples from HCV screening camps organized by Allah Rakhi Trust Hospital Faisalabad and from blood donors visiting to Allied Hospital Faisalabad. Blood samples from 300 subjects (77% males and 23% females) with a mean average age of 32 +/- 20 years were randomly collected, and analyzed after separating the plasma by serological testing as well as molecular methods during the period from January 2004 to December 2004. Genotyping of HCV positive samples were performed by restriction fragment length polymorphism (RFLP) analysis of the PCR products.
The results indicated that 48 (16%) cases were positive for anti-HCV antibody and 14 (4.7%) were on the borderline. Alanine aminotransferase (ALT) level indicated a wide range of activity from 5.0 U/L to 128 U/L. On the average, 79.4 U/L activity was found. By nested PCR, 84 (28%) samples were positive for HCV-RNA. The results of genotyping have indicated that 8 (9.5%) samples were of genotype-1 while only 2 (2.4%) samples were of HCV genotype-2. Hepatitis C virus genotype-3 was found to be major prevalent genotype as it was present in 68 (81%) samples. Six (7.1%) samples could not be identified by this method thus remained un-typed.
Hepatitis C virus-RNA detection by molecular method was found to be more sensitive for early diagnosis of HCV infection and relatively higher incidence of HCV infection with genotype-3 was found in general population of the area.
Saudi medical journal 04/2007; 28(3):390-5. · 0.52 Impact Factor
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ABSTRACT: Pakistan has a large population of more than 150 million people with an overall carrier frequency of approximately 5.6% for beta-thalassemia. Punjab is the largest province of the country having more than 50% of the population. The state of beta-thalassemia is alarming as consanguinity is very high (>81%) and the literacy rate is low in South Punjab. A thalassemia prevention program is the need of the hour in this part of Pakistan. In this study, we initiated awareness, screening, and characterization of the mutations causing beta-thalassemia as well as a genetic counseling program mainly in the districts of Faisalabad and D.G. Khan to establish prenatal diagnosis, a facility previously unavailable in this region for disease prevention. A total of 248 unrelated transfusion-dependent children and the available members of their families were screened to characterize the mutations and identify the carriers. Genetic counseling was provided to these families and prenatal diagnosis offered. In the samples analyzed, 11 beta-thalassemia mutations and three hemoglobin variants were detected mainly by using the Monoplex and Multiplex ARMS-PCR. First-trimester prenatal diagnosis was carried out through chorionic villus sampling (CVS) in seven pregnancies at risk. As a result of our campaign, 145 carrier couples planning to have more children gave their consent to have retrospective prenatal diagnosis in every pregnancy in future. A cooperative trend and a positive attitude toward the prevention of beta-thalassemia were noticed in the families with affected children and in the general population.
Prenatal Diagnosis 11/2006; 26(10):903-5. · 2.11 Impact Factor
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Hameed Amjad,
Salman Ahmad Malik,
Fazli-Rabbi,
Sharif Aysha,
Ahmad Nasir,
Hussain Wajahat,
Hassan Akhtar Bokhari,
Ali Shafaqat,
Nurjis Farwa,
Ahmad Mukhtar Khalid, Javed Anver Qureshi
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ABSTRACT: The epidemiology of diabetes mellitus was studied in and around Faisalabad, Pakistan. The age of diabetic patients ranged from 5 to 82 years. The mean (SD) values for age, age at diagnosis of diabetes and duration of diabetes were 50.798(13.449), 44.086(13.163) and 6.744(5.668) years respectively. The most frequent age, age at diagnosis and duration of diabetes was 45, 40 and 10 years respectively. Family history of diabetes was observed in 25.962% patients. There was no association among family history, age at diagnosis of diabetes and gender. Prevalence of obesity was 28% while 30% diabetic patients were lean. In obese group a high prevalence of female patients (79.310%) was observed as compared with males (20.689%). Type 2 diabetes was (98.077%) the most prevalent type and was more common in females. Preponderance of females (86.207% vs 13.793%) was found in age group of 35-44 years based on age at diagnosis of diabetes. Any kind of late diabetic complications were observed in 76% diabetic patients. Finally obese females with diabetic history in their families should be diagnosed for diabetes during 35-44 years of age. This practice may be of great help in early diagnosis and then after proper management of diabetes.
Pakistan Journal of Biological Sciences. 01/2002;
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ABSTRACT: This study was based on biodisposition kinetics of ofloxacin in Pakistani healthy female volunteers after oral administration. Ten healthy female volunteers were included in this study. The blood samples of each volunteer were collected after oral administration of ofloxacin. The concentration of ofloxacin in blood samples was measured by microbiological assay. The mean (SE) values of time to peak (t<sub>max</sub>), peak concentration (C<sub>max</sub>), absorption half life (t<sub>1/2α</sub>), absorption rate constant (ka), elimination half life (t<sub>1/2</sub>), elimination rate constant (K<sub>10</sub>β), were 1.012 ± 0.176 h, 0.907 ± 0.126 μg ml<sup>-1</sup>, 0.516? 0.093h, 13.593?2.936L h<sup>-1</sup>, 2.996 ± 0.567h and 0.291 ± 0.693 L h<sup>-1</sup> respectively. The mean (SE) values for area under curve (AUC), clearance (CL), volume of distribution (Vd) and mean resident time (MRT) were 4.358 ± 0.771 h.mg<sup>-1</sup> 1itter, 53.470 ± 11.068 l h<sup>-1</sup>, 214.41?49.127 litter and 5.030 ± 0.705 h respectively. Values of parameters like, volume of distribution, total body clearance and absorption rate constant were higher, while elimination half life, AUC, Cmax, and tmax were lower in local population as compared with foreign studies. There was no influence of body surface area on total body clearance of ofloxacin (R<sup>2</sup>=0.0581). There was an increase in body clearance of ofloxacin (R<sup>2</sup>=0.2236) and area under curve (AUC) for ofloxacin (R<sup>2</sup>=0.258) with increasing body surface are of volunteers. Therefore body surface area of volunteers may slightly influence the total body clearance and area under curve for ofloxacin. These gender-related differences mainly low body weight and surface area in females may warrant dosage adjustments.
Journal of Biological Sciences. 01/2002;
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ABSTRACT: This study was undertaken to find prevalence of diabetic complications and influence of age, sex, family history, duration, glycemic control and obesity on these complications in 1104 diabetic patients. Late diabetic complications were present in 76% cases. The prevalence of hypertension was 28.846%, retinopathy 25.962%, neuropathy 24.038%, nephropathy and ischemic heart disease 8.654%, polyarthritis 6.731%, angina and urinary track infection 5.769%, dermatitis 4.808% and atherosclerosis 1.923%. Overall 74% cases had poor glycemic control. An increase in mean (SD) (227.722 (74.521) vs. 222.360 (64.386) mg/dl) and most frequent (mode) (340 vs. 200 mg/dl) random blood glucose of complicated cases compared with non complicated cases was observed. There was no difference in mean (SD) age (50.768 (13.715) vs. 50.800 (12.845) years) and median age (50 vs. 50 years) of complicated and non-complicated cases while most frequent age (mode) (45 vs. 40 years) was higher in complicated cases. The mean (SD) (43.240 (12.965) vs. 46.760 (13.694) years), median (43 vs. 49 years) and most frequent age at diagnosis of diabetes (mode) (40 vs. 46 years) was lower in complicated cases compared with non-complicated cases. The prevalence of diabetic complications was low (66.667%) in diabetic patients with family history of diabetes as compared to diabetic patients without family history of diabetes (79.221%). An increased percentage of complicated cases in males (80.33%) as compared to female patients (72.09%) were observed. Mean (SD) duration of diabetes was higher in complicated diabetic patients (7.585 (5.730) years) as compared to non-complicated diabetic patients (4.080 (4.551) years). There was an increase in percent-complicated cases with an increase in duration of diabetes and both parameters showed a positive regression (R 2 = 0.84). Obese diabetic patients have 13.555 and 14.461% more chance of developing diabetic complications compared with normal and lean diabetic patients respectively. It was concluded that poor glycemic control, early age at diagnosis, gender (male), duration of diabetes and obesity are the factors which can increase the risk of developing diabetic complications.
Journal of Biological Sciences. 01/2002;
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ABSTRACT: The frequencies of ABO and Rhesus (D) blood groups and influence of gender were determined on prevalence of these blood groups. Blood group B was found to be the most frequent (38.004%). The frequency of blood group O was 28.755%, for group A 23.260% and for group AB 9.981%. In Rhesus blood grouping system the frequency of Rhesus (D) positive was 89.094%. Gene frequencies with respect to ABO and Rhesus (D) negative were different as for only ABO and ABO along with Rhesus (D) positive. The trend can be shown with a general formula O > B > A > AB. Group A positive (24.299%, 6.542% respectively) and negative (21.777%, 4.000% respectively) was more frequent in females as compared to males. In contrast group AB was more prevalent in males (12.444%) as compared to females (9.345%). There was a real preponderance of the blood group B over the blood groups O, A and AB as well as Rh (D) positive over Rh (D) negative. Predominance of blood group A in women was also reported. Group A along with Rhesus (D) negative group was more frequent than group B along with Rhesus (D) negative.
Pakistan Journal of Biological Sciences. 01/2002;
