Journal ArticleDOI
DNA polymorphism and molecular pathology of the human globin gene clusters
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TLDR
This study has provided important insights into normal gene structure and function and the nature of molecular defects leading to a set of inherited diseases and forms the basis for rational design of specific tests for prenatal diagnosis of particular forms of β-gene cluster.Abstract:
In the past few years there has been intensive study of the human globin genes. This study has provided important insights into normal gene structure and function and the nature of molecular defects leading to a set of inherited diseases. In turn, this information forms the basis for rational design of specific tests for prenatal diagnosis of particular forms of β-gene cluster in which recombination appears to be more frequent than in areas surrounding it. This will provide new insights into the evolution of a segment of the genome and aid in explaining how particular mutations are dispersed to numerous chromosome types. Second, study of additional β-thalassemia genes from human populations not previously studied will provide new gene defects, some of which may yield further clues about RNA transcription and processing. In addition, some (e.g., the coding region substitutions that affect RNA processing) may allow identification of new mechanisms of gene dysfunction. Third, we need further refinement of prenatal diagnostic tests so that early, accurate, and simplified assessment of pregnancies at risk can be accomplished widely, particularly in those geographic regions where β-thalassemia is especially prevalent.read more
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Variable number of tandem repeat (VNTR) markers for human gene mapping
Yusuke Nakamura,Mark Leppert,Peter O'Connell,Roger K. Wolff,Tom Holm,Melanie Culver,Cindy Martin,Esther Fujimoto,Mark Hoff,Erika Kumlin,Ray White +10 more
TL;DR: Ten oligomeric sequences derived from the tandem repeat regions of the myoglobin gene, the zeta-globin pseudogene, the insulin gene, and the X-gene region of hepatitis B virus were used to develop a series of single-copy probes that revealed new, highly polymorphic genetic loci whose allele sizes reflected variation in the number of tandem repeats.
Journal ArticleDOI
The CpG dinucleotide and human genetic disease
TL;DR: Findings are consistent with methylation-induced deamination of 5-methyl cytosine and suggest that methylation of DNA within coding regions may contribute significantly to the incidence of human genetic disease.
Journal ArticleDOI
The ligation amplification reaction (LAR)--amplification of specific DNA sequences using sequential rounds of template-dependent ligation.
D Y Wu,R B Wallace +1 more
TL;DR: The use of the ligation amplification reaction (LAR) is demonstrated to distinguish the normal from the sickle cell allele of the human beta-globin gene and as a detection system for polymerase chain reaction-enriched DNA sequences.
Journal Article
Mutations of cell cycle regulators. Biological and clinical implications for human neoplasia.
TL;DR: Cross-talk pathways between these two nuclear proteins are being delineated, implying potential links between p53 and pRB in cell cycle control, apoptosis, and tumor progression, and detection of TP53 and RB mutations and altered expression of their encoded products appear to be of clinical significance, often correlating with prognosis, when identified in specific cancers.
Journal ArticleDOI
Silent Cerebral Infarcts in Sickle Cell Anemia: A Risk Factor Analysis
Thomas R. Kinney,Lynn A. Sleeper,Winfred C. Wang,Robert A. Zimmerman,Charles H. Pegelow,Kwaku Ohene-Frempong,Doris L. Wethers,Jacqueline A. Bello,Elliott Vichinsky,Franklin G. Moser,Dianne Gallagher,Michael R. DeBaun,Orah S. Platt,Scott T. Miller +13 more
TL;DR: Patients with risk factors for silent infarcts should be evaluated for cerebrovascular disease and consideration must be given to therapeutic intervention if evidence of infarction is found.
References
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Journal ArticleDOI
Detection of specific sequences among DNA fragments separated by gel electrophoresis.
TL;DR: This paper describes a method of transferring fragments of DNA from agarose gels to cellulose nitrate filters that can be hybridized to radioactive RNA and hybrids detected by radioautography or fluorography.
Journal ArticleDOI
Organization and Expression of Eucaryotic Split Genes Coding for Proteins
R Breathnach,P Chambon +1 more
TL;DR: This paper organizes the organization of protein codes into split genes, a small number of which are expressed in the chickenuct, and discusses generalization, generalization and Molecular Evolution.
Journal ArticleDOI
A catalogue of splice junction sequences
TL;DR: The sequence CAAG/GTAGAGT was found to be a consensus of 139 exon-intron boundaries (or donor sequences) and (TC)nNCTAG/G was found of 130 intron-exon boundaries ( or acceptor sequences).
Expression of eucaryotic split genes coding for proteins
TL;DR: In this paper, the split genes were described as follows: Globin genes expressed in the chicken o,iduct, Vitellogenin genes, Collagen genes and Actin genes.
Journal ArticleDOI
The isolation of structural genes from libraries of eucaryotic DNA
Tom Maniatis,Ross C. Hardison,Elizabeth Lacy,Joyce Lauer,Catherine O'Connell,Diana Quon,Gek Kee Sim,Argiris Efstratiadis +7 more
TL;DR: A procedure for eucaryotic structural gene isolation which involves the construction and screening of cloned libraries of genomic DNA is presented and Restriction mapping and hybridization studies reveal the presence of closely linked beta-globin genes.