Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy.

The reading frame hypothesis has been proposed to explain the molecular basis of two allelic forms of muscular dystrophies, Duchenne/Becker muscular dystrophy (D/BMD). To evaluate the hypothesis in Indian D/BMD patients, we analyzed deletion of dystrophin exons in 147 DMD and 19 BMD patients. Our studies showed deviation of more than 30% from the reading frame hypothesis in DMD patients (47/147). The present results implicate a need to reevaluate the reading frame hypothesis.

Fighting cancer in the information age: the role of Internet.

Cancer is a major health problem worldwide which is likely to assume alarming proportions in the next two decades. Communication and information have increasingly been considered important in helping people to cope with cancer. The arrival of Internet offers the opportunity to fundamentally reinvent medicine and health care delivery. Medical professionals can now use the Internet for continuing medical education, access latest medical information, for fast confirmation of diagnosis, exchange opinion on treatment strategies and in palliative care. Internet can provide cost-effective and timely ways to deliver a complex mix of interesting and high-quality information and expertise to cancer patients. Patients can also independently search the Internet to know about their illness and treatment options. However, of concern is the quality of information that is available in the 'Net'. Some Internet sites may contain erroneous information on cancer and can pose serious problems. There are also many good sites, which provide quality information on cancer for medical professionals, researchers and patients. This article focuses on how the Internet will aid us in fight against cancer.

Molecular diagnosis in haemophilia A.

Haemophilia A is the commonest cause of X-linked inherited bleeding disorder. Due to inadequate medical facility for management of the disease, the DNA based genetic diagnosis has assumed great importance. Ideally, the direct detection of mutations is the most accurate and reliable approach for carrier detection and prenatal diagnosis. However, mutation detection is possible only in limited number of cases. In majority of haemophiliacs, no common mutation is easily identifiable. The limitation has been over come by the use of linkage-based analysis using polymorphic DNA markers in the factor VIII gene. Some of these markers can be identified by restriction enzymes and are called RFLP markers. Other markers are a class of short tandem repeats sequences which result in differences in the number of CA repeats in different individuals. The combined use of these markers has made it possible to identify carriers and provide prenatal diagnosis in upto 95% of families having affected individuals. Therefore, the recurrence of the disease can be prevented to a great extent in the haemophilia A affected families.

Internet resources for the human geneticist.

The Internet is a massive expanding body of information, which is likely to play a significant role for clinicians and researchers across the world. Since its inception in December 1969 the Internet has grown rapidly and is anticipated to expand 1,000% in the coming next few years. Various useful databases on human genetics are already in 'the Net' and many more are being added constantly. The future of human geneticist is in handling of information. In this review of Internet and compilation of important web site addresses we expect to stimulate and instruct human geneticists in navigating the Net. The list of web sites provided in this article is expected to facilitate their search.