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N Migone

Publications and source records attributed to N Migone.

67 records · Page 4Linked to original sources
PubMed1983

A DNA polymorphism in close physical linkage with the proopiomelanocortin gene.

Cellular DNAs from a panel of 20 unrelated individuals were screened for restriction fragment length polymorphisms (RFLP) with a DNA probe containing the first exon of the proopiomelanocortin gene (POMC), which has been assigned to chromosome 2p23-25. Digestion with the restriction endonuclease Sst 1 revealed a high frequency RFLP. The two alleles that were found are fragments of 10- and 15-kilobase (kb) length and are in Hardy-Weinberg equilibrium with frequencies of 72.6% and 27.4%, respectively. Informative families were tested for linkage between POMC/Sst 1 RFLP and other polymorphic markers of chromosome 2. Linkage was excluded to AcP-1 (2p23-25) at 15% recombination, which is still consistent with the chromosomal assignments for these genes. The close physical linkage (10 kb) of the polymorphic locus to the POMC gene makes this RFLP a suitable marker for future linkage studies involving the POMC gene.

Chromosome Mapping↗
PubMed1982

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study.

The development of prenatal diagnosis in Italy was made difficult by the restrictions of the old abortion law and only in recent years has a consistent number of cases been investigated. We report the experience on prenatal chromosome diagnosis of ten Italian centers participating in a collaborative study on 4952 diagnoses performed from 1972 to 1980. The main indication groups were: advanced maternal age (2882 cases), previous child with chromosome anomaly from parents with normal karyotype (847 cases), and chromosome anomaly in one parent (97 cases). The other indications for amniocentesis, including cases without a cytogenetic risk, have been assembled into a "miscellaneous" group (1126 cases). We found 125 abnormal fetal karyotypes (2.5%) of which 89 were unbalanced (1.8%). The frequencies and types of chromosome anomalies are reported in detail for each indication group and are compared with the corresponding one from the European Munich Conference. The great majority of these Italian data were not included in the Munich report.

Chromosome Aberrations↗
PubMed1980

Antibody-induced redistribution and shedding of membrane proteins in Duchenne muscular dystrophy lymphocytes.

Surface redistribution of molecules induced by specific antibody interaction was monitored by HLA antigen "lysostrip" experiments and "shedding" of Ig surface molecules, both in Duchenne Muscular Dystrophy patients and in normal controls. No significant difference in the rate of disappearance of the proteins for the lymphocyte surface was observed between patients and controls.

Animals↗
PubMed1978

Spondylodiscitis and ankylosing spondylitis: HLA typing and nosological implications.

Nine cases from among 64 patients with ankylosing spondylitis (AS) are described. In addition to bilateral sacroiliitis these cases had a peculiar type of spondylodiscitis characterised by quite diffuse and marked sclerosis of multiple vertebral bodies, with only minimal erosions of the adjacent vertebral plates while classical syndesmophytosis was absent. The antigen HLA-B27 was found only in 1 of these 9 cases. This type of spondylodiscitis could discriminate among all the patients with AS a subgroup with a peculiar clinical pattern and a probably distinctive pathological mechanism.

Adult↗
PubMed1978

Sacroiliitis and HLA. A clinical and genetical study.

Among 39 patients (23 males, 16 females) with sacroiliitis (SI) 17 were HLA-B27 positive. The female/male ratio in the B27-positive group was 2/15. Seventy-four first-degree relatives of 26 probands were also investigated. A high occurrence of SI (20%) was observed in the families of B27-positive probands compared with only 3.7% in the families of B27-negative probands. In the former families SI occurred only in B27-positive subjects with an earlier onset of symptoms and a male prevalence. In the latter, the disease showed a later onset and a lack of male preponderance. The nosological and prognostic relevance of the B27 typing is stressed.

Adolescent↗
PubMed1977

Family studies and HLA typing in ankylosing spondylitis and sacroiliitis.

The families of 21 ankylosing spondylitis (AS) and 16 sacroiliitis (SI) patients were investigated and typed for HLA markers. The association of HLA B27 with AS was confirmed, but no strong evidence for the same or other HLA markers being associated with SI was found. Inheritance patterns in families were analyzed according to the multifactorial and monofactorial models. It is proposed that a major gene associated or interacting with the B27 product controls the susceptibility to AS, and that this gene behaves as a dominant with incomplete penetrance. The problem as to whether linkage disequilibrium maintained by selective pressure, or functional epistasis between the "disease gene" and the B27 antigen may be the acting mechanism of association, remains to be elucidated.

Arthritis↗