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Dystrophy in Istria: Molecular Genetic Approach. Part II: Analysis of Genetic Polymorphisms

I. Medica
N. Logar
B. Peterlin

Puni tekst: engleski, pdf (56 KB) str. 287-294 preuzimanja: 301* citiraj
APA 6th Edition
Medica, I., Logar, N. i Peterlin, B. (2000). Dystrophy in Istria: Molecular Genetic Approach. Part II: Analysis of Genetic Polymorphisms. Collegium antropologicum, 24 (2), 287-294. Preuzeto s https://hrcak.srce.hr/10017
MLA 8th Edition
Medica, I., et al. "Dystrophy in Istria: Molecular Genetic Approach. Part II: Analysis of Genetic Polymorphisms." Collegium antropologicum, vol. 24, br. 2, 2000, str. 287-294. https://hrcak.srce.hr/10017. Citirano 26.02.2021.
Chicago 17th Edition
Medica, I., N. Logar i B. Peterlin. "Dystrophy in Istria: Molecular Genetic Approach. Part II: Analysis of Genetic Polymorphisms." Collegium antropologicum 24, br. 2 (2000): 287-294. https://hrcak.srce.hr/10017
Harvard
Medica, I., Logar, N., i Peterlin, B. (2000). 'Dystrophy in Istria: Molecular Genetic Approach. Part II: Analysis of Genetic Polymorphisms', Collegium antropologicum, 24(2), str. 287-294. Preuzeto s: https://hrcak.srce.hr/10017 (Datum pristupa: 26.02.2021.)
Vancouver
Medica I, Logar N, Peterlin B. Dystrophy in Istria: Molecular Genetic Approach. Part II: Analysis of Genetic Polymorphisms. Collegium antropologicum [Internet]. 2000 [pristupljeno 26.02.2021.];24(2):287-294. Dostupno na: https://hrcak.srce.hr/10017
IEEE
I. Medica, N. Logar i B. Peterlin, "Dystrophy in Istria: Molecular Genetic Approach. Part II: Analysis of Genetic Polymorphisms", Collegium antropologicum, vol.24, br. 2, str. 287-294, 2000. [Online]. Dostupno na: https://hrcak.srce.hr/10017. [Citirano: 26.02.2021.]

Sažetak
One of the world highest prevalence estimates of myotonic dystrophy (DM) has been reported in the Croatian region Istria. To analyse the population genetic characteristics of DM locus in Istria, two intragenic and three extragenic polymorphic markers were tested. The Southern blot technique was used for D19S63 locus analysis, whereas PCR analysis was performed for CKMM, Alu polymorphism, DMPK (G/T) intron 9/HinfI polymorphism, and D19S207 genetic markers. The compound haplotypes segregating with DM were established. A complete association between the DM mutation and D19S63, D19S207, intron 9/HinfI polymorphism and Alu polymorphism markers were found. In all DM chromosomes: D19S63 and Alu markers had the allele 1 in common; D19S207 had the allele 3 in common, DMPK (G/T) intron 9/HinfI marker had the allele 2 in common. The analysis of CKMM polymorphism revealed genotype heterogeneity; in DM chromosomes either allele 2 or allele 4 were found.
The haplotype analysis in the population of Croatian Istria supports the linkage disequilibrium between the DM mutation and Alu polymorphism, intron 9/HinfI polymorphism, D19S63 and D19S207 markers as reported worldwide. The results of the haplotype analysis suggest a common origin of the mutation in Istrian population.

Hrčak ID: 10017

URI
https://hrcak.srce.hr/10017

Posjeta: 448 *