Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

1) Uniparental disomy (UPD) results from the exceptional derivation of a pair of the offspring chromosome from one parent only and has been documented thus far for chromosomes 2, 4, 5, 6, 7, 11, 13, 14, 15, 20, 21, 22 both X's and the XY pair. Its consequences on the phenotype may result from three potentially harmful effects, namely isodisomy, interference with genomic imprinting and, occasionally the vestigial aneuploidy from which UPD may have originated. 2) In isodisomy, the uniparental pair is partially or entirely homozygous, through the duplication of a same chromosomal DNA template, thus bringing about an increased risk of recessive disorders. As a result, conditions such as cystic fibrosis, a type of osteogenesis imperfecta, thalassemia alpha or beta, retinoblastoma, rod monochromacy, etc., have now been reported. 3) Duplication of both homologues of a parental pair in a diploid genome is called heterodisomy. Both iso- and heterodisomy may also cause disruption of the genomic imprints normally modifying the differential expression of some maternal and paternal genes or gene sequences needed for eugenic growth and development, in the course of normal biparental inheritance. Such a disturbance can be one of the causes of congenital clinical entities as well defined as Angelman, Prader-Willi or Beckwith-Wiedemann syndromes and some new syndromes, for instance for UPD 7 mat, UPD 14 mat and, probably also 14 pat. 4) All in all, UPD can cause morbidity or lethality by altering imprinting processes, mimicking certain deletions or duplications, generating recessive disorders or prompting malignant tumor development. 5) In the clinical field, UPD occasionally upsets some mendelian tenets of traditional inheritance, and raises, the question of the evolutional role plaid by genomic imprinting (GI). An hypothetical opinion is that one of GI potential side effects is a biased intergenerational preferential display or skip of parental features. This could be so because some of the inherited genes or gene domains only gain maternal or paternal expression in the offspring, as a function of their parental imprint.
 ...
PMID:[Uniparental disomy: a review of causes and clinical sequelae]. 854 Jun 83

The spectrum of disease causing mutations is immense. It just so happens that the overwhelming majority of genetic alterations in the APC gene with leads to adenomatous polyposis coli generate truncated gene products. This observation lead to the development of the in vitro synthesis protein assay (protein truncation test) which is a sensitive method to detect these truncated gene products from patient samples. This article describes the assay to detect truncated proteins for the APC gene, which can also be applied to other disease causing genetic alterations which commonly lead to truncations such in HNPCC, von Hippel-Lindau, osteogenesis imperfecta, retinoblastoma, BCRAI, beta-thalassemia, hemophilia B, Duchenene and Becker muscular dystrophy.
 ...
PMID:Direct analysis for familial adenomatous polyposis mutations. 1187 75

We have applied a new method of genetic analysis, called 'minisequencing', to preimplantation genetic diagnosis (PGD) of monogenic disorders from single cells. This method involves computer-assisted mutation analysis, which allows exact base identity determination and computer-assisted visualization of the specific mutation(s), and thus facilitates data interpretation and management. Sequencing of the entire PCR product is unnecessary, yet the same qualitative characteristics of sequence analysis are maintained. The main benefit of the minisequencing strategy is the use of a mutation analysis protocol based on a common procedure, irrespective of the mutations involved. To evaluate the reliability of this method for subsequent application to PGD, we analysed PCR products from 887 blastomeres including 55 PGD cases of different genetic diseases, such as cystic fibrosis, beta-thalassaemia, sickle cell anaemia, haemophilia A, retinoblastoma, and spinal muscular atrophy. Minisequencing was found to be a useful technique in PGD analysis, due to its elevated sensitivity, automation, and easy data interpretation. The method was also efficient, providing interpretable results in 96.5% (856/887) of the blastomeres tested. Fifteen clinical pregnancies resulted from these PGD cases; conventional prenatal diagnosis confirmed all the PGD results, and 10 healthy babies have already been born. Its applicability to PGD could be helpful, particularly in cases in which the mutation(s) involved are difficult to assess by restriction analysis or other commonly used methods.
 ...
PMID:The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders. 1280 47