PubMed · 5868049
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1965-10-14. [Physicians in Cyprus].. https://pubmed.ncbi.nlm.nih.gov/5868049/
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The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene provides evidence of a limited number of "founder" chromosomes and predisposing high-risk haplotypes related to the mutation. To investigate the origin of mutations in the fragile X syndrome in the Hellenic populations of Greece and Cyprus, we studied the alleles and haplotypes at DXS548 and FRAXAC2 loci of 16 independent fragile X and 70 normal control chromosomes. In addition, we studied 191 unrelated normal X chromosomes for the distribution and frequencies of CGG alleles. At DXS548, 6 alleles were found, 2 (194 and 196) of which were represented on fragile X chromosomes. At FRAXAC2, 6 alleles were found, 4 of which were present on fragile X chromosomes. Sixteen haplotypes were identified, but only 5 were present on fragile X chromosomes. The highest number of CGG repeats (> or = 33) were associated with haplotypes 194-147, 194-151, 194-153, and 204-155. The data provide evidence for founder chromosomes and high-risk haplotypes in the Hellenic population.
This paper presents an analysis of the reports of heat casualties to Medical Branch, United Kingdom Land Forces (UKLF) for the period 1986-1994. There was a marked reduction in reports for 1990-1993 compared to the remaining period studied. This may have been the result of improved prevention or under-reporting. This data has been compared to the reports of heat casualties occurring in Cyprus from 1990-1994. Forced marches and military runs were the primary activities causing heat casualties in UK compared to military exercises in Cyprus. There were many more severe casualties in UK than in Cyprus. If it is necessary to reduce the annual rate of heat casualties in the Army then changes in policy should be focused on the problem in UK. This should consider the generation of metabolic heat as the primary cause of heat illness as opposed to environmental factors. In overseas commands (eg Cyprus) the relative effects are reversed.
Multiplex Polymerase Chain Reaction (PCR) for 18 different exons of the dystrophin gene was used to characterize the mutations in 29 Cypriot families with Duchenne or Becker Muscular Dystrophy. Deletions were detected in 21 out of 28 families from which DNA was available for an affected patient (75%). Quantitative Multiplex PCR further enabled the identification of a duplication in one of our families (3.6%). Quantitative Multiplex PCR also enabled carrier diagnosis in families where a deletion or a duplication was detectable in an affected patient. Out of 69 at-risk females examined in these families, 20 were shown by Quantitative Multiplex PCR to be carriers, including three obligatory carriers. In the remaining six families with a surviving patient, carrier diagnosis was based on haplotype analysis using microsatellite polymorphisms from the 5'- and 3'-ends of the dystrophin gene. Haplotype analysis was informative in three of the above families (10.7%). Thus, deletions or duplications were detected in 78.6% of our families with a surviving patient, while carrier diagnosis was possible in 89.3% of these families. In the single family without a surviving patient, Quantitative Multiplex PCR indicated the absence of a deletion or duplication in the mother, while haplotype analysis could not be carried out in the absence of an affected patient. The high rate of new mutations in the dystrophin gene of which only about 80% are directly detectable by Quantitative Multiplex PCR, and the difficulty of haplotype analysis in some of our families, restricts the usefulness of these techniques to about 90% of our families.