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The distributions of surnames in populations of small and large towns are almost exactly linearized by a log-log transformation. This indicates probable fit of genetic models to most such distributions, even when the number of surnames is very large. Genetic parameters can then be conveniently calculated from surname distributions.It was found that inbreeding indicators calculated from isonymy are negatively correlated with the size of the towns from which the names were extracted. It was also found that the levels of inbreeding at present observed in Ferrara have little effect on the frequency of homozygotes for the beta-thalassaemia gene.

The methylation of the human oestrogen receptor (ER) gene was analysed by restriction enzymes in normal and neoplastic human breast tissues and cell lines. CCGG sequences in regions inside the gene, which are methylated both in normal breast and in tissues that are not the target of the oestrogen, are hypomethylated in 30% of tumours, both ER+ and ER- carcinomas. Moreover, 5' sequences of the gene, which are hypomethylated in normal breast and not in tissues not the target of oestrogen, are methylated to a lower degree in ER+ carcinomas, whereas they are methylated to a greater degree in ER- carcinomas. However, the same region is equally hypomethylated in both ER+ and ER- cancer cell lines. Our results indicate that in breast carcinomas ER DNA methylation is deranged, and in cancer cell lines is different from that observed in primary tumours. Furthermore, the abnormal methylation in the 5' end seems to be related to abnormal expression, namely diffuse hypomethylation in carcinomas with high ER content and hypermethylation in carcinomas without ER. These findings support our previous hypothesis that DNA methylation could be involved in the control of ER gene expression and demonstrate that abnormal ER gene methylation is a typical feature of breast cancers.

Sex steroid-binding activities have been identified by several authors in normal and pathological thyroids and the expression of the canonic androgen receptor (AR) has recently been demonstrated in human thyroid follicular cells.In order to assess what influence, if any, androgen exposure has on thyroid cell growth, the effect of dihydrotestosterone (DHT) on [3H]thymidine (thy) incorporation and cell proliferation was investigated in thyroid follicular cells in vitro. In a primary culture of goitrous cells, DHT induced a significant reduction of [3H]thy incorporation at concentrations ranging from 10−12to 10−8m, with a more pronounced effect at 10−9m. At this concentration, the inhibitory effect was evident after both 24 and 48 h of treatment and in various types of primary thyroid cell cultures. In goitrous cells, the DHT-induced decrease of [3H]thy was associated with a reduction of expression of the proliferation-associated nuclear Ki-67 antigen, a protein commonly used to assess cell growth fraction. In TPC cells, an AR-positive thyroid papillary carcinoma cell line, DHT at concentrations between 10−12and 10−8msignificantly decreased the growth rate. DHT (10−9m) produced an approximately 50–60% inhibition of cell proliferation and the antiandrogen cyproterone acetate was capable of reversing such effects. The DHT-induced reduction of TPC cell proliferation was associated with a significant reduction of c-myc RNA levels. Thyroperoxidase mRNA levels and thyroglobulin production were not reduced by androgen in primary cultures of goitrous cells.In conclusion, our results indicated that androgens may have a role in this gland by reducing the proliferation, but not the function, of follicular cells.Journal of Endocrinology(1996) 151,185–194

Androgen-binding activity has been identified in normal and pathological thyroids, but evidence for the expression of the canonic androgen receptor (AR) in the thyroid has not been provided so far. In this study we have used reverse transcription (RT)-PCR to examine RNA expression of the canonic AR gene in human thyroid tissues, in primary cultures of human thyrocytes and in a variety of neoplastic thyroid cell lines (NPA, TPC and WRO). An AR cDNA fragment with the expected size of 262 bp was detected in normal tissues and cultured thyrocytes as well as in neoplastic cell lines, demonstrating that the gene for AR is indeed expressed in thyroid follicular cells. Immunocytochemical analysis revealed the presence of the AR protein in cancer cell lines and androgen treatment increased nuclear positivity to AR. In a survey of 35 thyroid tissues AR cDNA was detected in all the non-neoplastic samples (6 normal and 3 goitrous) and in 19 of 26 neoplastic samples. AR cDNA was not detected in 4 of the 9 follicular adenomas and in 3 of the 12 papillary carcinomas. AR was revealed by immunohistochemistry in 1 of 2 normal thyroids, in 1 goiter and in 1 of 2 neoplastic thyroids. These findings show the presence of the canonic AR in the human thyroid.Journal of Endocrinology(1996) 148,77–85

P53 protein expression was examined in 204 surgically removed colorectal adenocarcinomas by immunohistochemistry using frozen tissue sections and monoclonal antibody DO7. Nuclear staining of more than 5% of neoplastic cells was observed in 124 (60.8%) tumours, which were classified as p53 positive. p53 immunoreactivity was found to be unrelated to several clinical and pathological variables, including age and sex of patients, tumour site, tumour stage and grade of differentiation. p53 expression was demonstrated to be closely related to the flow cytometric nuclear DNA content of the tumour. DNA diploid carcinomas and aneuploid tumours with DNA index (DI)≤1. 20 had similar frequencies of p53 positive staining (40.9% and 48.1%, respectively), whereas aneuploid carcinomas with D1.20 had a significantly higher frequency of p53 overexpression (69.6%) (P=0.0003). With respect to the total study population (mean follow-up 20.6 months; range, 9‐35 months) the duration of overall survival was independent of p53 expression. However, in the group of 141 patients with TNM stage I‐II‐III disease who had undergone curative resection, positive p53 staining was associated with poorer disease-free (P=0.076) and overall survival (P=0.025). Our results provide supporting evidence that p53 expression may represent an independent prognostic parameter in colorectal cancer.