Dna Analysis in Genetic Disorders
نویسنده
چکیده
Porphyria cutanea tarda Gaucher's disease von Hippel-Lindau disease Huntington's chorea Polyposis coli Haemochromatosis 21-Hydroxylase deficiency Osteogenesis imperfecta (some forms) Cystic fibrosis Galactosaemia Multiple endocrine neoplasia Ila Sickle cell anaemia and a thalassaemia Acute intermittent porphyria Phenylketonuria (classic) Wilson's disease Retinoblastoma a,-Antitrypsin deficiency Tay-Sachs disease (x Thalassaemia Adult polycystic kidney disease Neurofibromatosis (peripheral) Osteogenesis imperfecta (some forms) Familial hypercholesterolaem ia Myotonic dystrophy Alzheimer's disease (familial) Homocystinuria Hurler's syndrome (mucopolysaccharidosis 1) Neurofibromatosis (central) hromosome No
منابع مشابه
O-45: Quantification of Cell-Free-Fetal-DNAfrom Maternal Plasma for the First Time in Pakistan:Implications for Non-Invasive PrenatalDiagnosis of Genetic Disorders
Background: Current prenatal diagnosis requires invasive testing which carries a 1-4% procedure-related-risk of miscarriage; hence, non-invasive techniques are desired. The recent demonstration of cell-free-fetal-DNA enriched from maternal plasma has opened new possibilities for non-invasive-prenatal-diagnosis of not only genetic-disorders such as β-thalassaemia and haemophilia but also chromos...
متن کاملتشکیل بانک ژنتیک برای بررسیهای ژنتیکی و اپیژنتیکی در اختلالهای روانپزشکی
Objectives: In most advanced countries, there are tissue, deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) banks which have been made to provide samples for researchers in order to speed up genetic studies in different medical disorders. This may save time and materials in comparison to self-governing projects that usually spend months to collect samples independently. In these banks pati...
متن کاملO-45: Quantification of Cell-Free-Fetal-DNAfrom Maternal Plasma for the First Time in Pakistan:Diagnosis of Genetic Disorders
Background: Current prenatal diagnosis requires invasive testing which carries a 1-4% procedure-related-risk of miscarriage; hence, non-invasive techniques are desired. The recent demonstration of cell-free-fetal-DNA enriched from maternal plasma has opened new possibilities for non-invasive-prenatal-diagnosis of not only genetic-disorders such as β-thalassaemia and haemophilia but also chromos...
متن کاملPrenatal diagnostic tests of genetic disorders: review article
The purpose of prenatal diagnosis tests is insisting of diagnosis of neonatal disorders, preparing a range of informed choices and making couples at risk to be ready for having children with genetic disorders as well. The aim of this article is to investigate all of the tests in order to determine the best one which has the lowest risk and the highest sensitivity. Screening tests (maternal bloo...
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Mental retardation (MR) is one of the most frequently found major genetic disorders around the world, affecting 1-3% of the people in the general population. The recent advancement in molecular biology and cytogenetic study has made possible the identification of new genes for a variety of genetic disorders including autosomal recessive MR. Recessive genetic disorders are common in Pakistan due...
متن کاملشناسایی یک حذف بزرگ در DNA میتوکندریایی بیماران ایرانی مبتلا به آریتمی قلبی
Introduction: Long QT Syndrome is one of the arrhythmic disorders of the heart that causes sudden cardiac death in patients. Most of the investigations have focused on nuclear genome for finding genetic defects in these disorders, but some of the cases with LQTS cannot be explained by mutations of identified genes. It prompted the authors to focus on the mitochondrial DNA and monitor rearrangem...
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