3? creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations

Gennarelli, Massimo; Novelli, Giuseppe; Cobo, Ana Maria; Baiget, Montserrat; Dallapiccola, Bruno

doi:10.1007/bf00201719

Cited by 11 publications

(4 citation statements)

References 14 publications

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“…Frequency of the GG, AG and AA NcoI genotype (f = 0.09, f = 0.42 and f = 0.49, all patients) was also comparable between both sexes, 0.09 versus 0.07, 0.43 versus 0.35 and 0.48 versus 0.59, respectively. Allelic and genotype frequencies of the NcoI RFLP are comparable to those previously observed in Caucasian individuals [6][7][8]10]. Genotype distributions in all patients and within sex were in agreement with the prediction by Hardy-Weinberg equilibrium.…”

Section: Ckmm-ncoi Genotypesupporting

confidence: 85%

“…DNA was extracted from white blood cells. Polymerase chain reaction amplification of a 1170 bp fragment was performed as described [10]. Polymerase chain reaction products were digested using NcoI (Roche Diagnostics, Mannheim, Germany) at 371C for 2 h and subjected to electrophoresis in an ethidium-bromide stained 1% agarose gel.…”

Section: Genotype Determinationsmentioning

confidence: 99%

“…Whereas polymorphisms of the CKMM gene other than the NcoI RFLP or the TaqI RFLP, which is in strong linkage disequilibrium with the former [8,10], may be associated with aerobic power or endurance performance in CAD, only the functional correlate on protein level should help to decide whether genetic variation of the CKMM gene has a possible influence in future studies. A homogenous cohort consisting only of Caucasian patients with CAD was used; our findings should therefore not be generalized.…”

Section: Aerobic Power and Response To Trainingmentioning

confidence: 99%

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The caregene study: muscle-specific creatine kinase gene and aerobic power in coronary artery disease

Defoor¹,

Martens

Matthijs

et al. 2005

European Journal of Cardiovascular Prevention & Rehabilitat

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In 927 biologically unrelated Caucasian patients with coronary artery disease it was investigated whether the NcoI restriction fragment length polymorphism of the muscle-specific creatine kinase (CKMM) gene is associated with aerobic power and with the response to physical training. Physical training significantly (P<0.001) increased peak oxygen consumption in the GG, AG and AA NcoI genotypes. Covariate-adjusted peak oxygen consumption at baseline, after training and the response to training were not different across CKMM NcoI genotypes.

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Section: Ckmm-ncoi Genotypesupporting

confidence: 85%

Section: Genotype Determinationsmentioning

confidence: 99%

Section: Aerobic Power and Response To Trainingmentioning

confidence: 99%

See 1 more Smart Citation

The caregene study: muscle-specific creatine kinase gene and aerobic power in coronary artery disease

Defoor¹,

Martens

Matthijs

et al. 2005

European Journal of Cardiovascular Prevention & Rehabilitat

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“…The PCR conditions were as follows: initial denaturing at 95 8C 5 min; 35 cycles at 95 8C 30 s, 58 8C 30 s, 72 8C 1 min, and a final extension at 72 8C 5 min. The primer pair used for the NcoI CKMM polymorphism were: 5′-GTGCGGTGGACACAGCTGCCG and 5′-CAGCTT-GGTCAAAGACATTGAGG [7,28]. The PCR conditions were as follows: initial denaturing at 95 8C 5 min; 35 cycles at 95 8C 30 s, 66 8C 30 s, 72 8C 1 min, and a final extension at 72 8C 10 min.…”

Section: Dna Amplificationmentioning

confidence: 99%

Is there an Association between ACE and CKMM Polymorphisms and Cycling Performance Status during 3-Week Races?

et al. 2005

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In this paper, we examine the association between polymorphisms of the angiotensin-converting enzyme (ACE) and muscle-specific creatine kinase (CKMM) genes, and the actual performance status observed in professional cyclists capable of completing a classic tour stage race such as the Giro d'Italia, Tour de France, or Vuelta a España. To accomplish this, we compared the frequencies of the ACE and CKMM genotypes/alleles in 50 top-level Spanish professional cyclists that have completed at least one of these events to 119 sedentary controls, and 27 elite (Olympic-class) Spanish runners. The genetic polymorphism at the CK-MM locus was detected with the NcoI restriction endonuclease. The results of our study showed that the proportion of the DD genotype was higher in cyclists (50.0 %) than in the other two groups (p<0.05), the proportion of the ID genotype was higher in controls (46.2 %) than in the other two groups (p<0.05), and the proportion of the II genotype was higher in runners (40.7 %) than in the other two groups (p<0.05). The proportion of the D allele was higher in both cyclists (65.0 %) and controls (57.6 %) than in runners (46.3 %) (p<0.001), whereas the proportion of the I allele was higher in runners than in the other two groups (p<0.001). No statistical differences were found for CKK-MM- NcoI. We conclude that in top-level professional cyclists capable of completing a classic 3-wk tour race, the frequency distribution of the D allele and the DD genotype seems to be higher than in other endurance athletes such as elite runners (in whom the I allele is especially frequent).

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Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle

Novelli

Gennarelli

Zelano

et al. 1992

Cell Biochemistry & Function

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Recent studies have shown that the gene encoding for the slow skeletal troponin isoform T (TNNT1) is located on the proximal long arm of human chromosome 19 in the myotonic dystrophy (DM) region. In order to test TNNT1 as a candidate gene for DM, we have isolated TNNT1 cDNA from skeletal muscle from two healthy individuals and from two patients with DM. Sequencing of the TNNT1 cDNA from the DM and normal muscle revealed two sequence variants but no transcriptionally significant mutations. This work rules out a defect in the coding segment of TNNT1 as a cause of DM and provides a polymerase chain reaction protocol for studying troponin T gene expression.

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3? creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations

Cited by 11 publications

References 14 publications

The caregene study: muscle-specific creatine kinase gene and aerobic power in coronary artery disease

The caregene study: muscle-specific creatine kinase gene and aerobic power in coronary artery disease

Is there an Association between ACE and CKMM Polymorphisms and Cycling Performance Status during 3-Week Races?

Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle

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