ABSTRACT
Chronic eosinophilic leukemia (CEL) is a myeloproliferative disease characterized by excessive eosinophilic proliferation with clonal cytogenetic abnormalities. The most frequent cytogenetic abnormality is a break in the q 31-35 region of chromosome 5, where genes encoding for IL-3, IL-5 and GM-CSF (all cytokines involved in eosinophilopoiesis) are located. We report the case of a patient with CEL with t(1;5) (q23;q31), who obtained complete hematologic and major cytogenetic response after two years of alpha-interferon (alpha-IFN) therapy. Two other cases of complete response to alpha-IFN are reported in the literature. A trial with alpha-IFN could be considered as front line treatment in this rare disease.
Subject(s)
Antineoplastic Agents/therapeutic use , Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 5 , Hypereosinophilic Syndrome/drug therapy , Interferon-alpha/therapeutic use , Translocation, Genetic , Adult , Chronic Disease , Cytogenetics , Humans , Hypereosinophilic Syndrome/genetics , Hypereosinophilic Syndrome/pathology , Interferon alpha-2 , Male , Recombinant Proteins , Remission InductionSubject(s)
Celiac Disease/diagnosis , HLA Antigens/genetics , Antibodies/blood , Celiac Disease/blood , Celiac Disease/genetics , Celiac Disease/immunology , Child , Child, Preschool , Diagnosis, Differential , False Positive Reactions , Gastrointestinal Diseases/diagnosis , Gliadin/blood , Gliadin/immunology , HLA Antigens/blood , Humans , Polymerase Chain ReactionABSTRACT
To investigate whether unusual allele segregation might explain the dominant negative effect of the expanded allele for myotonic dystrophy on myotonin protein kinase mRNA metabolism, which is suggested to cause the disease, we determined the number of CTG repeats at the DM locus in the nonaffected alleles of 64 DM (dystrophia myotonia) patients. The relative distribution was then compared with the distributions obtained from alleles of the normal parents and normal siblings of DM patients. Comparison was also made with the allele distribution of normal subjects from the same geographic area. It appears that the CTG repeat number of the nonaffected allele in DM patients is not critical for the expression of the disease.
Subject(s)
Gene Frequency , Myotonic Dystrophy/genetics , Protein Kinases/genetics , Protein Serine-Threonine Kinases , Trinucleotide Repeat Expansion/genetics , Alleles , Humans , Myotonin-Protein Kinase , RNA, Messenger/metabolismABSTRACT
Allele frequencies at six VNTR loci, 11 STR loci, and at the HLA-DQA1 locus were evaluated in a well-defined population from Campania (South Italy). The allele frequencies of three VNTR loci, 11 STR loci, and the HLA-DQA1 locus were compared with data obtained from a general Caucasian reference population in the USA. The aim of this study was to determine the power of each single locus and group of loci for forensic and paternity testing purposes. Significant differences between the allele frequencies of the two populations were found in two VNTR loci, four STR loci and in the HLA-DQA1 locus. The two populations were in Hardy-Weinberg equilibrium for the STR loci, but as expected, not for some VNTR loci. It was also found that: (i) the discriminatory power of two STR systems (nine and 11 loci, respectively) is similar in the two populations analysed; and (ii) that the allele frequencies for the STR systems of a large reference population can always be applied to subjects of a small subpopulation. In conclusion, for forensic purposes and for paternity testing, most of the 11 STR loci examined can be analysed using allele frequencies from a general Caucasian reference population without typing subpopulations, whereas the VNTR loci must be subtyped.
