PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 1736259

Genetic diagnosis based on molecular analysis.

S Langlois
View original source ↗Export metadata ↓

Abstract

This article presents the significant advances made in the area of applied molecular genetics in recent years. DNA analysis is now possible for a large number of single gene disorders. The type of testing available for those disorders most commonly dealt with by pediatricians is briefly outlined. Rapid advancement is expected to continue as new techniques are developed and mutations detected. This in turn will lead to extending DNA applications from the family with an affected child to using DNA for population screening of certain disorders.

Explore related subjects

Genetic Diseases, InbornGenetic TechniquesHumansJournal ArticleReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

S Langlois. 1992. Genetic diagnosis based on molecular analysis.. https://doi.org/10.1016/s0031-3955(16)38265-7

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2006

Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases?

With the availability of dense maps of anonymous and frequent SNPs spanning the whole human genome, genome-wide association studies are now becoming a reality. In this paper, we discuss the utility of these approaches to detect genetic risk variants involved in complex disease susceptibility and, in the best case scenario where a signal is detected, how helpful it will be to the understanding of the pathological process.

Genetic Diseases, Inborn↗
PubMed2006

Mutations in the NF-kappaB signaling pathway: implications for human disease.

The nuclear factor-kappa B (NF-kappaB) signaling pathway is a multi-component pathway that regulates the expression of hundreds of genes that are involved in diverse and key cellular and organismal processes, including cell proliferation, cell survival, the cellular stress response, innate immunity and inflammation. Not surprisingly, mis-regulation of the NF-kappaB pathway, either by mutation or epigenetic mechanisms, is involved in many human and animal diseases, especially ones associated with chronic inflammation, immunodeficiency or cancer. This review describes human diseases in which mutations in the components of the core NF-kappaB signaling pathway have been implicated and discusses the molecular mechanisms by which these alterations in NF-kappaB signaling are likely to contribute to the disease pathology. These mutations can be germline or somatic and include gene amplification (e.g., REL), point mutations and deletions (REL, NFKB2, IKBA, CYLD, NEMO) and chromosomal translocations (BCL-3). In addition, human genetic diseases are briefly described wherein mutations affect protein modifiers or transducers of NF-kappaB signaling or disrupt NF-kappaB-binding sites in promoters/enhancers.

Genetic Diseases, Inborn↗