1,721,015 research outputs found
Different Allele Frequency between Males and Females of a SNP of the Human Beta T Cell Receptor
Full text linkWe studied a single nucleotide polymorphism (SNP) located in the human beta T-cell
receptor, in association studies and different allele frequency in the two sexes. Here we
report a new series of 200 subjects (100 males and 100 females) in a restricted age
range, 20-30 years.
We found the following results: in males 57/100 (57%) were heterozygous, 26/100
(26%) were homozygous for the two digestion fragments and 17/100 (17%) were
homozygous for the 603bp fragment. Females were 44/100 (44%) heterozygous, 24/100
(24%) homozygous for the two digestion fragments and 32/100 (32%) homozygous for
the 603bp fragment. The allele frequency was significantly different according to chi
square analysis (X square statistic (df = 2) = 7.412; p = 0.025). Our study shows that in females, but not in males , there is a significant increase of CC homozygous status and a
proportionate decrease of heterozygous status compared with Hardy-Weinberg
expectations.
This study could explain the controversial results obtained by association studies
between this SNP (rs1800907) and autoimmune diseases made in the ninety and
uncorfirmed in more recent papers. Moreover it could be a starting point to search for
other autosomical DNAs diffences between the two sexes
Chromosome 7q31.1 deletion in myeloid neoplasms
No full textWe studied monosomy and deletions of chromosome 7 in 208 patients with myeloid disorders; we found 39 patients (19%) with monosomy or deletion of chromosome 7: 24 patients with chromosome 7 deletion and 15 with monosomy 7. In the 24 patients with chromosome 7 deletions, studied with copy-number variants, short-tandem repeats, microsatellites, single nucleotide polymorphisms, and deletion polymorphisms, the most common deleted region was 7q31.1 (20 patients). Deletion polymorphism studies performed in these 20 patients showed an interstitial deletion of at least 140 kilobase in 6 patients; the deletion spans between the genes forkhead box P2 and Myo D family inhibitor domain containing. Because both genes do not seem to be involved in leukogenesis, we suggest to look carefully into this deletion for the presence of tumor suppressor genes and microRNA
Deletion of long arm of chromosome 7 in myelodisplastic syndromes and therapy related acute myeloid leukemias
No full textMonosomy 7 and deletion of the long arm of chromosome 7 are frequent non-random findings in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), moreover they are present in almost 50% of therapy-related myelodysplasia and therapy-related leukemia (t-MDS and t-AML). We used polymerase chain reaction (PCR) and Southern blotting and hybridization for restriction fragment length polymorphism (RFLP) analysis of the chromosomal region 7q22-7q31.3, where mostly losses of heterozigosity (LOH) have been described in MDS and t-AML. We studied 50 patients affected by MDS and t-AML for LOH in this region. We found LOH in 4 patients (8%), the deletions were found in 7q22.1 for one patient and in 7q31.1 for three more patients
Cardiorespiratory and metabolic adjustments during submaximal and maximal exercise in polio athletes
No full textMany individuals who have had poliomyelitis are involved in muscular exercise and are frequently evaluated in the Sports Medical Centres in our country. This paper was aimed to evaluate whether, by means of submaximal and maximal ergometric tests, the existence of a post-polio syndrome (PPS) can be assessed. The PPS includes muscle atrophy, general fatigue, weakness and muscle, joint pain and affects 20-30% of the patients 30-40 years after the initial bout with the disease. Moreover the fitness level and the cardiorespiratory adjustments to exercise were assessed in poliomyelitis individuals of various ages and different training levels. Two groups of polio athletes with lesions restricted to the lower limbs were recruited. Group A, males, n = 9; 46 ± 4.8 (SD) years, initial bout at age 1-6; walking aids required, all involved in the 'crutch soccer' sport since 30 years. Group B, males, n = 8; 30 ± 3 years, initial bout at age 1-5, wheelchair users, elite basket ball players. Ac and Bc groups were the corresponding healthy sedentary controls. After medical examination and respiratory function tests, the cardiorespiratory adjustments to submaximal and maximal exercise were assessed at steady state on the wheelchair ergometer. In the controls the peak of oxygen (VO 2p) was also determined during bicycle exercise. In A group no signs or symptoms of post-polio syndrome were detected. HR/VO 2 and VE/VO 2 relationships during submaximal exercises were similar in polio and healthy controls. VO 2p peak (ml min 1·kg -1) on the wheelchair ergometer was 20.5 ± 2 (SE) in A; 19.6 ± 3 in Ac; 30.3 ± 1 in B and 20.8 ± 3 in Bc: On the bicycle VO 2p was 28.8 ± 3 in Ac and 31.3 ± 3 in Bc. Ventilatory equivalent and oxygen pulse were similar in all groups. We conclude that presumably training for many years may help to prevent the post-polio syndrome. Moreover, basket ball played at high level substantially improves the fitness level of polio individuals and may counteract the expected negative evolution of the muscular function of these patients
Immunoglobulin gene rearrangements and in vitro growth of stromal cells are prognostic indexes in B-chronic lymphocytic leukemia
No full text30 patients with B-chronic lymphocytic leukemia were investigated for stage of the disease, survival, immunoglobulin gene rearrangements, presence of nurse like cellsin in vitro cultures and spontaneous clinical lymphonode regression. We found all these criteria are useful prognostic indexes for the disease
- …
