Marriage system in the Italo-Albanians

The Italo-Albanian ethno-linguistic minority, living in 9 provinces of Southern Italy, has shown an increase of intermarriages with native Italian speaking individuals for the last decades of the 20th century. Marriage data was obtained through direct interviews of families of primary school students (6–13 years old). The information collected consisted of the birth place of parents and grandparents of each informant. The percentage values of intermarriages are about 25 in grandparents and 40 in parents.     

Position and orientation in the metaphase equator of an interchange quadrivalent of hybrid rye

The position and orientation of an interchange quadrivalent in flattened lateral views of metaphase I were studied in pollen mother cells of hybrid rye. Five quadrivalent types showed three positional distributions in the equator, these distributions having elements both similar to and very different from those found previously for an interchange quadrivalent of Allium triquetrum.     

Genetic structure of the population of Sicily.

Genetic heterogeneity within Sicily was investigated on the basis of ACP1, ADA, ESD, GLO1, PGD, PGM1, PGM2, SODA, ABO, and MN gene frequencies, and compared to those of other regions of Italy for which these same loci have been examined. Correspondence analysis revealed no differences within the island, at least at the provincial level, but showed genetic differentiation among Italian regions, distinctly clustering northern, central, and southern populations, respectively. These data indicate a close relationship between Sicily and southern Italy. In addition, the contribution of Middle Eastern populations to the gene pool of Sicily was evident.     

Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations.

To define Y-chromosome haplotypes, we studied seven biallelic polymorphic sites. We combined data with those from four dinucleotide-repeat polymorphisms, to establish Y-chromosome compound superhaplotypes. Eight biallelic haplotypes that matched the dendrogram proposed by other investigators were identified in 762 Y chromosomes from 25 African populations. For each biallelic site, coalescence time of lineages carrying the derived allele was estimated and compared with previous estimates. The "ancestral" haplotype (haplotype 1A) was observed among Ethiopians, "Khoisan" (!Kung and Khwe), and populations from northern Cameroon. Microsatellite distributions within this haplotype showed that the Khoisan haplotypes 1A are widely divergent from those of the other two groups. Populations from northern Africa and northern Cameroon share a haplotype (i.e., 1C), which is not observed in other African populations but represents a major Eurasian cluster. Haplotypes 1C of northern Cameroon are clearly distinct from those of Europe, whereas haplotypes 1C of northern African are well intermingled with those of the other two groups. Apportionment of diversity for the Y-chromosomal biallelic haplotypes was calculated after populations were clustered into different configurations. Despite some correspondence between language affiliation and genetic similarity, geographic proximity seems to be a better predictor of genetic affinity.     

World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker

Mild hyperhomocysteinemia is associated to mutations either in cystathionine beta-synthase (CBS) or in 5,10-methylenetetrahydrofolate reductase (MTHFR) genes. In 1995, Sebastio et al. characterized a 68 bp insertion in cis with the most common CBS mutation (T833C) detected in homocystinuric patients. Recently, this double mutation has been detected in Italian and North-American controls. Compared to a group of patients affected by coronary artery disease, North-American controls showed not statistically significant difference. Moreover, Italian controls displayed a microheterogeneity in the mutant allele frequency distribution depending on their geographical origin (North or South of Italy). Aim of our study was to evaluate the prevalence of the double in cis mutation in different populations. We studied 377 healthy subjects belonging to various human groups. Genomic DNA, extracted from peripheral blood samples, was amplified using specific primers; PCR fragments were digested with Bsr I restriction enzyme to detect the double mutation. Our data show a significant heterogeneity among the populations studied, therefore this mutation turned out to be a reliable anthropogenetic marker. The distribution of the double mutation will contribute, with other DNA polymorphisms, to evaluate the genetic admixture of mixed populations such as Afro-Americans.     

Origin and diffusion of mtDNA haplogroup X

A maximum parsimony tree of 21 complete mitochondrial DNA (mtDNA) sequences belonging to haplogroup X and the survey of the haplogroup-associated polymorphisms in 13,589 mtDNAs from Eurasia and Africa revealed that haplogroup X is subdivided into two major branches, here defined as “X1” and “X2.” The first is restricted to the populations of North and East Africa and the Near East, whereas X2 encompasses all X mtDNAs from Europe, western and Central Asia, Siberia, and the great majority of the Near East, as well as some North African samples. Subhaplogroup X1 diversity indicates an early coalescence time, whereas X2 has apparently undergone a more recent population expansion in Eurasia, most likely around or after the last glacial maximum. It is notable that X2 includes the two complete Native American X sequences that constitute the distinctive X2a clade, a clade that lacks close relatives in the entire Old World, including Siberia. The position of X2a in the phylogenetic tree suggests an early split from the other X2 clades, likely at the very beginning of their expansion and spread from the Near East.     

Inspiratory resistance delays the reporting of symptoms with central hypovolemia: association with cerebral blood flow

We tested the hypothesis that breathing through an inspiratory threshold device (ITD) during progressive central hypovolemia would protect cerebral perfusion and attenuate the reporting of presyncopal symptoms. Eight human subjects were exposed to lower-body negative pressure (LBNP) until the presence of symptoms while breathing through either an active ITD (-7 cmH(2)O impedance) or a sham ITD (0 cmH(2)O). Cerebral blood flow velocity (CBFV) was measured continuously via transcranial Doppler and analyzed in both time and frequency domains. Subjects were asked to report any subjective presyncopal symptoms (e.g., dizziness, nausea) at the conclusion of each LBNP exposure. Symptoms were coincident with physiological evidence of cardiovascular collapse (e.g., hypotension, bradycardia). Breathing on the active ITD increased LBNP tolerance time (mean +/- SE) from 2,014 +/- 106 s to 2,259 +/- 138 s (P = 0.006). We compared CBFV responses at the time of symptoms during the sham ITD trial with those at the same absolute time during the active ITD trial (when there were no symptoms). While there was no difference in mean CBFV at these time points (sham, 44 +/- 4 cm/s vs. active, 47 +/- 4; P = 0.587), total oscillations (sum of high- and low-frequency spectral power) of CBFV were higher (P = 0.004) with the active ITD (45.6 +/- 10.2 cm/s(2)) than the sham ITD (22.1 +/- 5.4 cm/s(2)). We conclude that greater oscillations around the same absolute level of mean CBFV are induced by inspiratory resistance and may contribute to the delay in symptoms and cardiovascular collapse that accompany progressive central hypovolemia.     

Myoelectric signal measurement during prolonged computer terminal work.

Myoelectric signal (MES) behaviour was studied during prolonged, sustained, low level contractions using a portable system with limited data storage capacity. A pre-processing technique is described which overcomes memory and data storage limitations in a portable multichannel MES data logger. This technique for data reduction was used to study MES behaviour in four muscle groups during prolonged computer terminal work. Myoelectric signal parameters were recorded from eighteen individuals while they performed computer work both without breaks, and with "microbreaks" (short rest breaks of 30 seconds duration) at twenty minute intervals. Myoelectric signal (MES) data were collected from the cervical paraspinal extensors, the lumbar erector spinae, the upper trapezius, and the forearm extensors while participants performed their usual computer work activities. No significant slope for either amplitude or mean frequency was determined in either the break or no break trials over an eighty minute recording period. Instead, most data sets revealed a cyclic trend in terms of frequency and amplitude parameters of the MES. Characteristic values were compared between trials when subjects did and did not take microbreaks. It was found that the overall median value of mean frequency was higher for the "break" than the "no break" protocol only in the cervical extensors, although the clinical significance of this finding is not well understood. By far, the most interesting finding of this work was the discovery of a cyclic trend in the mean frequency of the myoelectric signals studied. This trend was present even when participants did not take breaks. The trend is a potential indicator of the cyclic recruitment of motor units during sustained postural contractions, and is the primary area to be investigated in future studies by the authors.