P Martin

Publications (5)15.55 Total impact

• Article: Message from the Editors

  R. Pounder, P. Peterson, P. Martin, J. Rhodes
  Alimentary Pharmacology & Therapeutics 12/2005; 23(1):1 - 1. · 3.77 Impact Factor
• Article: Detection of somatic mutations in the mitochondrial DNA control region of colorectal and gastric tumors by heteroduplex and single-strand conformation analysis.

  A Alonso, P Martin, C Albarran, B Aquilera, O Garcia, A Guzman, H Oliva, M Sancho
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  ABSTRACT: Each entire hypervariable region of the mitochondrial DNA control region was screened for mutations from paired normal and tumor DNA corresponding to a group of 21 patients (13 colorectal and 8 gastric adenocarcinomas) using both heteroduplex analysis and single-strand conformation analysis. These two mutation scanning strategies allowed the identification of sequence alterations in 3/13 (23%) colorectal tumors and in 3/8 (37%) gastric tumors. Heteroduplex analysis showed the heteroplasmic state of the majority of these tumor mutations. Sequence analysis revealed two A:T/G:C transitions (nucleotide positions: 16241 and 16166) in hypervariable region 1 (HV1) and two C:G/T:A transitions (nucleotide positions: 76 and 312), one A:T/G:C transition (nucleotide position: 93), a 1-basepair C:G deletion (nucleotide position: 309), and a 2-base-pair CC:GG insertion (nucleotide position: 309) in the HV 2 region. A considerable proportion of these mutations was found in homopolymeric regions which are highly polymorphic among humans. Different mechanisms (clonal expansion, increased oxidative damage, and nuclear mutator mutations) were suggested to explain the increased mitochondrial DNA mutation rate observed in cancer.
  Electrophoresis 06/1997; 18(5):682-5. · 3.30 Impact Factor
• Article: Rapid detection of sequence polymorphisms in the human mitochondrial DNA control region by polymerase chain reaction and single-strand conformation analysis in mutation detection enhancement gels.

  A Alonso, P Martin, C Albarran, O Garcia, M Sancho
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  ABSTRACT: The article describes a rapid approach for the detection of sequence polymorphisms in the mitochondrial (mt)DNA control region that involves enzymatic amplification of each entire mtDNA control region (HV1 and HV2) and the subsequent analysis of the PCR products by single-strand conformation analysis (SSCA) in mutation detection enhancement (MDE) gels, followed by silver stain detection. HV1 and HV2 SSC reference ladders were developed to standardize the classification of the different mtDNA types. Twenty-five mtDNA types were observed among the 45 Spanish individuals analyzed: 11 types were observed in the HV1 region as compared with 10 types in the HV2 region. This mutation scanning strategy could be a promising method of potential use not only in forensic genetics but also in population and evolutionary studies.
  Electrophoresis 09/1996; 17(8):1299-301. · 3.30 Impact Factor
• Article: A HinfI polymorphism in the 5' flanking region of the human VNTR locus D1S80.

  A Alonso, P Martin, C Albarrán, M Sancho
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  ABSTRACT: A restriction fragment length polymorphism (RFLP) characterized by the presence (HinfI+) or absence (HinfI-) of a HinfI site has been found in the 5' flanking region of the VNTR locus D1S80. RFLP-allele frequencies were determined from 82 unrelated individuals: HinfI+ = 0.49, HinfI- = 0.51. The RFLP/VNTR haplotype frequencies show an absolute association between the HinfI+ allele and the VNTR allele of 18 repeat units and an extreme association between the HinfI- allele and the VNTR allele of 24 repeat units. The remaining VNTR alleles associate more randomly with the 2 flanking HinfI alleles.
  Deutsche Zeitschrift für die Gesamte Gerichtliche Medizin 02/1995; 107(4):216-8. · 2.59 Impact Factor
• Article: Amplified fragment length polymorphism analysis of the VNTR locus D1S80 in central Spain.

  A Alonso, P Martin, C Albarran, M Sancho
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  ABSTRACT: The polymorphism of the D1S80 locus has been analyzed in a population sample of 203 unrelated individuals living in Madrid (central Spain) by PCR and subsequent semi-dry discontinuous polyacrylamide gel electrophoresis (Tris-chloride/Tris-glycine buffer system) followed by silver staining. The electrophoretic system described in this study offers high resolution in the separation of the different D1S80 alleles allowing the detection of microvariability around the allele T22 in the spanish population. Twenty different alleles containing 17-40 repeats of the basic 16 bp unit were distinguished. The alleles T18 and T24 were found to be relatively common in Spain, as in other populations, with frequencies of 0.224 and 0.372, respectively. No evidence of significant deviations from Hardy-Weinberg equilibrium was found in these preliminary population data.
  Deutsche Zeitschrift für die Gesamte Gerichtliche Medizin 02/1993; 105(6):311-4. · 2.59 Impact Factor