One gene , many phenotypes

نویسنده

  • Rabah M. Shawky
چکیده

Phenotype descriptions are valuable information right at the interface of medicine and biology. With the rapid advancement in the fi eld of genetics, thousands of genes involved in human diseases have been cloned. It was expected that knowledge of mutations would lead to consistent genotype-phenotype correlations. The understanding of mechanisms underlying genotype-phenotype discrepancies is important, as it will move clinical genetics towards predictive medicine, allowing better selection of therapeutic strategies and individualized counseling of persons affected with genetic disorders.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

P30: Are There Anxious Genes?

Anxiety comprises many clinical descriptions and phenotypes. A genetic predisposition to anxiety is undoubted; however, the nature and extent of that contribution is still unclear. Extensive genetic studies of the serotonin (5-hydroxytryptamine, 5-HT) transporter (5-HTT) gene have revealed how variation in gene expression can be correlated with anxiety phenotypes. Complete genome-wide linkage s...

متن کامل

Prevalence of erm Gene among Clinical Isolates of Staphylococcus aureus in Shahrekord, Iran

Background: Development of drug resistance to Staphylococcus aureus (S. aureus) has led to the use of older antibiotics such as macrolide-lincosamide-streptogramin B (MLSB) for the treatment of infections. MLSB resistance can be caused by several mechanisms, however, one of the predominant reasons is target modification mediated by erm gene...

متن کامل

Heritability for Stroke: Essential for Taking Family History

 There are many well-established factors that influence the risk of stroke including blood pressure, diabetes, low socioeconomic status and smoking, however, the shared genetic resource in members of a family effect on stroke predisposition. Genome-wide association studies (GWAS) have demonstrated evidence of a shared genetic source in stroke risk. This review considered the influence of family...

متن کامل

The Interaction between Dietary Fiber and the Mediterranean Dietary Pattern Score with FTO Gene Polymorphisms in Relation to Obesity Phenotypes

Introduction: Although variants in the FTO gene have been found to be associated with susceptibility to obesity, however, recent studies suggest that dietary intakes may modify the association. This study aimed to investigate the interaction of the Mediterranean dietary pattern (MD) and fiber intake with FTO gene polymorphisms in relation to obesity phenotypes. Materials and Methods: Participan...

متن کامل

The comparison of a,AT phenotypes in some HBsAG-positive patients with and without cirrhosis in Tehran

Alpha-1- antitrypsin is the most important serine protease inhibitor in serum. This protein has several phenotypes. Some of these phenotypes such as MZ, M, Z, M, S, MS, ZZ,…. Cause a,AT deficiency which leads to damage in many tissues such as liver, lung, kidney. 60 patients and 28 healthy individuals (control group), aged 7-65 years old were studied for a,AT activity and a,AT phenotypes. The c...

متن کامل

Common Genetic Variant of insig2 Gene rs7566605 Polymorphism Is Associated with Severe Obesity in North India

Background: Obesity is a very common disorder resulting from an imbalance between food intake and energy expenditure, and it has a substantial impact on the development of chronic diseases.  The aim of this study was to examine the association of INSIG2 (rs7566605) gene polymorphism with obesity and obesity associated phenotypes in North Indian subjects. Methods: The variants were investig...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2009