Detection of large rearrangements in the dystrophin gene in Duchenne and Becker muscular dystrophy is possible in about 65-70% of patients by Southern blotting or multiplex PCR. Subsequently, carrier detection is possible by assessing the intensity of relevant bands, but preferably by a non-quantitative test method. Detection of microlesions in Duchenne and Becker muscular dystrophy is currentl...

Advances in molecular medicine and increasing attention of the media to clinical developments in genetics have spurred the demand for genetic counselling services for several conditions, most notably for hereditary cancers. 2 Genetic counsellors in the Canadian province of Ontario serve a population of 11.7 million, of whom approximately 85% live in urban areas and 15% live in rural areas. The ...

OBJECTIVE To review recent advances in the molecular genetics of retinitis pigmentosa with emphasis on the development of genetic markers that aids diagnosis and prognosis. DATA SOURCES AND EXTRACTION Literature search of MEDLINE from 1988 to 2005 using the following key words: 'retinitis pigmentosa', 'rhodopsin', 'RP1', 'RPGR', and 'genetic counseling'. References of two genes--RHO and RP1--...

INTRODUCTION Over the last few years, many private companies are advertising direct-to-consumer genetic testing (DTC GT), mostly with no or only minor clinical utility and validity of tests and without genetic counselling. International professional community does not approve provision of DTC GT and situation in some EU countries has been analysed already. The aim of our study was to analyse cu...

Inherited mutations in the DNA mismatch repair genes (MMR) can cause MMR deficiency and increased susceptibility to colorectal and endometrial cancer. Microsatellite instability (MSI) is the defining molecular signature of MMR deficiency. The clinical classification of identified MMR gene sequence variants has a direct impact on the management of patients and their families. For a significant p...

BACKGROUND We describe a multistep model of cancer genetic counselling designed to promote awareness, and disease surveillance and preventive measures for hereditary and familial breast and ovarian cancer. PATIENTS AND METHODS Step T0 of the model entails information giving; this is followed by pedigree analysis and risk estimation (T1), risk communication and genetic testing (T2), and geneti...

The pedigrees of 192 subjects at risk of Duchenne or Becker muscular dystrophy, myotonic dystrophy, or balanced chromosome translocations attending three regional genetic clinics were inspected to identify relatives who were themselves at high risk of these disorders. Of the 342 relatives eligible for inclusion, 43% (63/147) of the register relatives and 26% (50/195) of the non-register relativ...

Genetic testing has been proposed as a means to increase smoking cessation rates and thus reduce smoking prevalence. To understand how that might be practically possible, with appreciation of the current social context of tobacco use and dependence, we performed a contextual analysis of smoking-related genetics and smoking cessation. To provide added value, genetics would need to inform and imp...

The Genetics Counselor is a computer program, written in LISP, designed to handle problems of medical genetics counseling. It is an attempt to apply the methods of artificial intelligence research to medical diagnostic problems. The program attempts to map the data space of a family-tree structure into the hypothesis space of classical Mendelian genetics by use of a heuristic search. The input ...

Recent developments in molecular and human genetics have increased interest in genetics. Clinical genetics is involved in the diagnosis, management, and control of hereditary disorders and has emerged as an important discipline in small animal practice for several reasons. Effective preventative measures reduced the frequency of infections, nutritional disturbances, and intoxications. Furthermo...