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Gene Disorders (gene + disorders)

Distribution by Scientific Domains

Medical Sciences	57%

Selected Abstracts

Searching for genes in diabetes and the metabolic syndrome

INTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 2004
G. A. Hitman
Summary Evidence for a genetic basis for type 2 diabetes and the metabolic syndrome has been derived from studies of families, twins and populations with genetic admixture. Identification of genes associated with disease pathogenesis is now underway using techniques such as genome scanning by positional cloning and the candidate gene approach. Genome scanning in several different ethnic groups has identified chromosome regions harbouring type 2 diabetes susceptibility genes such as the novel gene, calpain 10 (CAPN10). The hepatic nuclear factor 4, (HNF4,) gene partly explains the linkage peak on chromosome 20, while the upstream transcription factor (USF1) is associated with familial combined hyperlipidaemia (FCHL) and maps close to the type 2 diabetes associated 1q peak. Peroxisome proliferator-activated receptor gamma (PPAR,) was identified as a candidate gene based on its biology. A Pro12Ala variant of this gene has been associated with an increased risk of type 2 diabetes. Many genes accounting for monogenic forms of diabetes have been identified , such as maturity onset diabetes of the young (MODY); glucokinase (GCK) and HNF1, mutations being the most common causes of MODY. GCK variants result in ,mild' diabetes or impaired glucose tolerance (IGT) and relatively few cardiovascular complications, while HNF1,- associated MODY is more typical of type 2 diabetes, frequently being treated with sulphonylureas or insulin and resulting in microvascular complications. Testing for single gene disorders associated with type 2 diabetes and obesity may determine cause, prognosis and appropriate treatment; however, for the more common polygenic diseases this is not the case. In type 2 diabetes, molecular genetics has the potential to enhance understanding of disease pathogenesis, and help formulate preventative and treatment strategies. [source]

Hematological features and molecular lesions of hemoglobin gene disorders in Taiwanese patients

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 1p2 2010
H.-J. LIN
Summary Hemoglobin (Hb) gene disorders are one of the most common inherited diseases in Taiwan, which include ,-thalassemia, ,-thalassemia, and Hb variants. In this study, we collected and analyzed mutations found in 930 patients with Hb gene disorders except Hb Bart's Hydrops and ,-thalassemia major. The patients included 650 cases of ,-thalassemia, 225 cases of ,-thalassemia, 9 cases of ,-thalassemia combined with ,-thalassemia, and 46 cases of Hb variants or Hb variants combined with ,-thalassemia or ,-thalassemia. The most common type of ,0 -thalassemia and ,++ -thalassemia mutations in our study were the SEA type deletion and the ,3.7 deletion, respectively; the most common ,-thalassemia mutation was the IVS-2 nt 654 C,T mutation; and the most common Hb variant was the HbE. We compared the relationships between genotype and hematological phenotypes of various Hb gene disorders and found that different genotypes of ,0 -thalassemia have similar hematological features. In conclusion, the results of our study provide data of the complex interaction of thalassemias and Hb variants which might be useful for other researchers in this field. [source]

SAFE,The Special Non-invasive Advances in Fetal and Neonatal Evaluation Network: aims and achievements

PRENATAL DIAGNOSIS, Issue 2 2008
Lyn S. Chitty
Abstract In this short review, the objectives and work of SAFE,the Special Non-invasive Advances in Fetal and Neonatal Evaluation Network, a European Union Framework VI network of excellence is described. We demonstrate how this network facilitates the implementation of non-invasive prenatal diagnosis (NIPD) for single gene disorders, fetal rhesus typing, aneuploidy and pregnancy complications. Copyright © 2008 John Wiley & Sons, Ltd. [source]

Detection of chromosome aberrations during prenatal genetic testing for single gene disorders

PRENATAL DIAGNOSIS, Issue 7 2005
Joël Zlotogora
No abstract is available for this article. [source]

Issues and concerns of couples presenting for preimplantation genetic diagnosis (PGD)

PRENATAL DIAGNOSIS, Issue 12 2002
Mandy G. Katz
Abstract Background The use of preimplantation genetic diagnosis (PGD) to select genetically ,normal' human embryos and to transfer them to the uterus of a woman has generated considerable controversy. Debate has occurred over the implications of PGD, sex selection, safety of embryonic manipulation and eugenics. This study evaluates a range of social and moral concerns of couples towards PGD and assisted reproductive technologies (ART) prior to treatment to obtain unbiased authentic attitudes independent of the treatment cycle and the outcome. Methods A total of 121 subjects were administered a structured questionnaire after each couple's in vitro fertilization (IVF) or genetic counselling session. Group A consisted of 41 subjects presenting for PGD of single gene disorders (PGD-SG) and group B consisted of 48 subjects undertaking PGD for aneuploidy screening (PGD-AS). A control group consisted of 32 subjects that were about to commence their first IVF cycle. Results and discussion All groups found PGD to be a highly acceptable treatment. They expressed little concern about its extension to testing non-disease states such as sex and they were strongly in favour of a shared decision-making model in which couples have considerable autonomy over decisions about the embryo(s) to transfer. Differences between the groups included issues surrounding the transfer of embryos, restrictions to PGD and the destruction of embryos. Copyright © 2002 John Wiley & Sons, Ltd. [source]