Recombinant DNA techniques in the diagnosis of inherited disorders.

Gusella, James F.

doi:10.1172/jci112493

Cited by 27 publications

(3 citation statements)

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“…5 In some diseases such as diabetes it has been difficult to link the RFLP to the phenotypic expression of the disease, 6 -7 but in others such as sickle cell anemia, 8 Huntington's Chorea, 9 and Duchenes muscular dystrophy 10 such linkages have led to the development of important screening tests. Recently the gene for human renin has been cloned and sequenced.…”

Section: Ata From Epidemiological and Twin Studiesmentioning

confidence: 99%

A lack of genetic linkage of renin gene restriction fragment length polymorphisms with human hypertension.

Naftilan

Williams

Burt³

et al. 1989

Hypertension

107

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Because renin is an important enzyme in blood pressure regulation, we studied the possibility that an alteration in the structure of the human renin gene is genetically linked to human essential hypertension or associated with levels of plasma renin activity or blood pressure. By using specific DNA probes, we have identified four polymorphisms in the human renin gene with the restriction enzymes Taq I, HindUl, Bgl I, and Bgl II. The gene location of all of these polymorphisms except for the Bgl II polymorphism has been determined, and their frequencies were initially estimated in a population of 50 random subjects. To test the clinical significance of these polymorphisms, we studied 68 persons from a large Utah pedigree with a high incidence of hypertension. Among nine relatives with hypertension, genetic linkage without recombination was ruled out by observing several obligate recombinants. We also found no significant association of the restriction fragment length polymorphisms with quantitative measurements of sitting or standing, systolic or diastolic blood pressures, or plasma renin activity in 59 untreated members of this pedigree. Although we found no genetic linkage in this set of study subjects, the characterization of the restriction fragment length polymorphisms for the renin gene may be useful in future studies of other selected pedigrees for the presence of one or more of these to be a genetic marker in hypertension. (Hypertension 1989;14:614-618) D ata from epidemiological and twin studies suggest that a genetic component to essential hypertension exists. Because renin is an important enzyme in blood pressure regulation, it is reasonable to explore the possibility that an alteration of the renin gene is in some respect linked to the pathophysiology of human essential hypertension.

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Section: Ata From Epidemiological and Twin Studiesmentioning

confidence: 99%

A lack of genetic linkage of renin gene restriction fragment length polymorphisms with human hypertension.

Naftilan

Williams

Burt³

et al. 1989

Hypertension

107

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“…Uridine triphosphate, UTP is utilized for example, in the reactions involving conversion of galactose to glucose in which uridine diphosphate glucose and uridine diphosphate galactose also are formed. UTP is a precursor for the polymerization of uridine nucleotides into RNA (Gusella, 1986).…”

Section: Dna and Rnamentioning

confidence: 99%

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2018

Biochem Biotechnol Res

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In this paper, mutation point in the nucleotides transformations was studied. The major purine and pyrimidine bases were analyzed. Mutation are hereditary changes in genetic information, resulting from spontaneous or xenobiotic induced DNA damage. Point mutation and frame shift mutations were considered. Phosphorylation is the most important in the synthesis of purine and pyrimidine nucleosides and DNA damage. This paper considers impact of toxic effects to phosphorylation reactions modifications.

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“…DNA linkage analysis, in families with multiple affected members, is one way of testing the hypothesis that mutation in a par ticular gene of interest (the 'candidate gene') causes a given genetic disorder [10,11]. We have used the genetic linkage method to ap proach the question: Do mutations in type II collagen cause the Stickler syndrome in some or all affected families?…”

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confidence: 99%