Browsing by Author "Nada Mukhtar Hassan Abdelkarim"

Filter results by typing the first few letters
Now showing 1 - 2 of 2
  • Thumbnail Image
    Item
    Molecular Characterization of TPO gene mutations in Sudanese patients with Congenital Hypothyroidism
    (Al Neelain University, 2015) Nada Mukhtar Hassan Abdelkarim
    Introduction Congenital hypothyroidism is the most common congenital endocrine disorder worldwide . Approximately 80 to 85% of cases are caused by defects in thyroid development (dysgenesis), the remaining 15 to 20% are due to errors of thyroid hormone biosynthesis (dyshormonogenesis) . Congenital hypothyroidism is also the most common preven table cause of mental retardation. Its neurological defects can only be reversible if diagnosed and treated early. I t s incidence rate is 1 out of 3000/4000 live births worldwide However, t his incidence rate is higher in developing countries such as Sudan ( 1 of 1400/2200 newborn infants ) in which its population is character ized by consanguinity (25 - 70%). The present study aimed to assess the demographic and clinical pattern of congenital hypothyroidism (dyshormonogenesis) in Sudan, to characterize TPO gene mutations in Sudanese patients with Congenital Hypothyroidism (dyshormonogenesis ) . Methods A total of 5 6 patients referred to Gaffar Ibn Auf Children Hospital presented with clinical features suggesting congenital hypothyroidism (dyshormonogenesis) were enrolled in this study. Demographic and clinical data was obtained by a predesigned questionnare. Five ml of venous blood were collected in EDTA tube from each patient under complete aseptic conditions for DNA extraction. All patients signed a written consent that has been approved by Al Neelain University Ethical Committee prior to the study. Genomic DNA was extracted using Guanidine Chloride method . Detection of TPO gene was performed by polymerase chain reaction (PCR) using primers for selected exons 7, 8, 9, and 14. Reaction products were electrophoresed on 1% agarose – TBE gels and visualized with XIII gel documentation system. Amplified region was directly sequenced to identify and characterize mutations in TPO gene. Data were analyzed using SPSS 13 software. Descriptive statistics (frequencies and percentages) were obtained for categorical variables. Genotype analysis was performed using Bio Edit program, Haploview program and Phyre bioscientific website for prediction of protein structure and configuration. Results Most patients enrolled in this study (85.7%) a re descendants of consanguineous marriage s. There were 11 reported families, comprising 74.3% of cases, with more than one affected member , o f th ose family members, 68.6 % were in fact siblings. Patients from consanguineous marriage had a 96.6% positive family history. The majority of patients (9 7.1%) developed complications. According to the tribal origin, the vast majority of patients (65.7%) were from Afro - Asiatic tribes, whereas 34.3% were from Nilo - Saharan tribes. There was a large variation in the geographical distribution of patients. Biochemical analysis and ultrasound findings were concordant with the genetic analysis results of patients. Sequencing analysis revealed apparent 18 single base changes (missense m utations) in exons 7, 8, and 9, and a deletion at exon14. Bioinformatics analysis showed strong L inkage D isequilibrium between two reported SNPs. Therefore they can be considered as potential genetic markers for disease association studies , population stud ies and neonatal screening. Conclusion Consanguinity, tribal marriages, and positive family history are factors that increase the risk of genetic disorders . Nineteen mutation including 8 novel mutations were detected. Strong LD between two SNPs is a potent ial g enetic marker for newborn screening of CH.
  • Thumbnail Image
    Item
    Molecular Characterization of TPO gene mutations in Sudanese patients with Congenital Hypothyroidism type DyshormonogenesisMolecular Characterization of TPO gene mutations in Sudanese patients with Congenital Hypothyroidism type Dyshormonogenesis
    (alneelain, 2015) Nada Mukhtar Hassan Abdelkarim
    Abstract pples is considering one of the important fruit in world . The apple tree, which originally came from Eastern Europe and southwestern Asia, has spread to most temperate regions of the world. The experiments were carried out by apples from four different countries in world America, Sudan, France and Syria. The study was carried out to determination the concentration of some essential mineralsCalcium, Sodium, Potassium and Magnesium (Na, Ca, K, Mg) in apples samples which taken from fruit and peel by using atomic absorption spectroscopy. It has been found the concentrations of Calcium, Sodium and Magnesium in peel France apples samples were18.412, 5.982 and 6.219 ppm respectively is higher than the concentration in apples collected from America, Sudan and Syria and the concentrations of Potassium in peel Sudan apples samples was 103.95 ppm is higher than the concentrations in apples collected from America, France, and Syria apples samples. The concentrations of Calcium, Sodium, Magnesium and Potassium in peel Syria apples samples were 9.310, 5.566, 5.919 and 5.552 ppm respectively were higher than the concentrations of Calcium, Sodium, Magnesium and Potassium in apple fruit sample were 10.613, 6.208, 5.350 and 5.286 ppm respectively. ملخص البحث يعتبرالتفاح مناهمالفواكه الموجوده في العالم ويزرعفي المناطقذات درجات الحرارة المعتدله. اجريت التجربه علي القشره وثمره التفاح من اربعه دول مختلفه (السودان جبل مره, امريكا , فرنسا ,سوريا). الدراسه اجريت لتحديد تراكيز بعضالعناصر الاساسيه )الكالسيوم, البوتاسيوم, الماغنزيوم والصوديوم) فيعينات مختلفه من التفاح اخذتمنالثمرةوالقشرةباستخدامجهازالامتصاصالذرى. وجد ان تركيز الكالسيوم,الصوديوم والماغنيزيوم في القشره الخارجيه للتفاح الفرنسي (18.412,10.01 1,6.219 ppm )علي التوالي اعلي بكيثرمن تركيزها في التفاح السوداني والسوري والامريكي وان نسبه البوتاسيوم في القشره الخارجيه للتفاح السوداني(ppm 103.95) اعلي بكثير من تركيز البوتاسيوم في التفاح الفرنسي والسوري والامريكي . ووجد ان تركيز العناصر الموجود في القشره الخارجيه للتفاح السوري اعلي من تركيز العناصر في ثمره التفاح السوري .تركيز الكالسيوم والصوديوم والماغنيزيوم والبوتاسيوم في القشره الخارجيه في التفاح السوري 9.310, 5.566,5.919, 5.552 ppm )) علي التوالي اعلي من تركيز نفس العناصر في الثمره الداخليه للتفاح السوري10.613, 6.208, 5.350, 5.286 ppm )).