RESUMO
To our knowledge, 58 cases of trisomy 14 in association with hematological malignancies have been reported, predominantly in myeloid malignancies. We report two patients with trisomy 14 associated with myelodysplasia. The bone marrow showed trilineage dysplasia, monocytosis and only mild thrombocytopenia. A nonmosaic karyotype was seen in both patients and survival from diagnosis was short (<1 year). The features are consistent with data from other published cases and support the hypothesis that trisomy 14 is a non-random karyotypic abnormality, with defined clinical associations and a poor prognosis.
Assuntos
Anemia Refratária com Excesso de Blastos/genética , Células da Medula Óssea/patologia , Cromossomos Humanos Par 14 , Leucemia Mielomonocítica Crônica/genética , Trissomia , Idoso , Anemia Refratária com Excesso de Blastos/patologia , Anemia Refratária com Excesso de Blastos/terapia , Humanos , Leucemia Mielomonocítica Crônica/patologia , Leucemia Mielomonocítica Crônica/terapia , MasculinoRESUMO
A 483 bp Bgl II/Sal I repeat free fragment was isolated from the vector containing the human serotonin 5-HT(2B) receptor. This fragment contained part of the coding sequence located within the last exon and the entire 3'-non-translated region. It was used to probe, by Southern blots, Pst I digested DNA from a series of 20 rodent-human somatic cell hybrid lines, each of which contained different complements of human chromosomes. This 5-HT(2B) receptor probe showed hybridization to a 2-7 kb Pst I fragment which revealed 100 percent concordance with location of the gene for this 5-HT receptor variant at chromosome 2.
Assuntos
Cromossomos Humanos Par 2 , Receptores de Serotonina/genética , Animais , Mapeamento Cromossômico , Cricetinae , Sondas de DNA , Desoxirribonucleases de Sítio Específico do Tipo II/metabolismo , Humanos , Hibridização In Situ , Camundongos , Receptor 5-HT2B de Serotonina , Receptores de Serotonina/metabolismoRESUMO
We have isolated from a human T-cell Jurkat cDNA library a novel human cDNA (2EL) that is closely related to the human type-IV PDE splice variant family 'A' (PDE-IVA) cDNA characterized previously by us [Sullivan, Egerton, Shakur, Marquardsen and Houslay (1994) Cell. Signalling 6, 793-812]; (h6.1, PDE-IVA/h6.1; HSPDE4A7). (PDE stands for cyclic nucleotide phosphodiesterase). The novel cDNA 2EL (PDE-IVA/2EL; HSPDE4A8) contains two regions of unique sequence not found in PDE-IVA/h6.1. These are a distinct 5'-end and a 34 bp insert which occurs within a domain thought to encode the type-IV PDE catalytic site and which can be expected to result in premature truncation of any expressed protein. HSPDE4A8 appeared to be catalytically inactive. Isolation and characterization of a human genomic cosmid clone revealed that 2EL and h6.1 represent alternative splice variants of the human PDE-IVA gene. Using a unique sequence found at the 5'-end of the 2EL cDNA, a probe was generated which was used to screen the DNA of human-hamster hybrids. This located the human gene for PDE-IVA to human chromosome 19. Through both the analysis of genomic DNAs from a human-hamster somatic cell hybrid panel and also using fluorescent in situ hybridization, it was shown that the human PDE-IVA gene is located on human chromosome 19, between p13.2 [corrected] and q12. This region on chromosome 19 has been shown to be related to genetic diseases such as the autosomal dominant cerebrovascular disease CADASIL, susceptibility to late-onset Alzheimer's disease and changes seen in benign pituitary and thyroid adenomas.
