539 research outputs found
Characterisation of genetic structure of the Mayan population in Guatemala by autosomal STR analysis
No full textBackground: Currently, the Guatemalan population comprises genetically isolated groups due to geographic, linguistic and cultural factors. For example, Mayan groups within the Guatemala population have preserved their own language, culture and religion. These practices have limited genetic admixture and have maintained the genetic identity of Mayan populations. Aim: This study is designed to define the genetic structure of the Mayan-Guatemalan groups Kaqchiquel, K’iche’, Mam and Q’eqchi’ through autosomal short tandem repeat (STR) polymorphisms and to analyse the genetic relationships between them and with other Mayan groups. Subjects and methods: Fifteen STR polymorphisms were analysed in 200 unrelated donors belonging to the Kaqchiquel (n = 50), K’iche’ (n = 50), Mam (n = 50) and Q’eqchi’ (n = 50) groups living in Guatemala. Genetic distance, non-metric MDS and AMOVA were used to analyse the genetic relationships between population groups. Results: Within the Mayan population, the STRs D18S51 and FGA were the most informative markers and TH01 was the least informative. AMOVA and genetic distance analyses showed that the Guatemalan–Native American populations are highly similar to Mayan populations living in Mexico. Conclusions: The Mayan populations from Guatemala and other Native American groups display high genetic homogeneity. Genetic relationships between these groups are more affected by cultural and linguistic factors than geographical and local flow. This study represents one of the first steps in understanding Mayan–Guatemalan populations, the associations between their sub-populations and differences in gene diversity with other populations. This article also demonstrates that the Mestizo population shares most of its ancestral genetic components with the Guatemala Mayan populations
La vita sulle ossa: ricostruzione biologica dell’attività e dello stato di salute delle popolazioni del passato
No full textEstrogen receptor alpha polymorphisms and fertility in populations with different reproductive patterns.
No full textThe estrogen receptor (ER) plays an important role in mediating estrogen action on target tissues. ER-alpha, the most abundant, is
found in all human reproductive tissues and studies on alpha-ER knockout mice have highlighted its role in reproduction.
ER-alpha gene (ESR1) polymorphisms have been associated with a variety of disorders including human infertility. In this
study, we examined the association of ESR1 PvuII and XbaI polymorphisms with fertility in two populations with different reproductive
patterns and precisely in a sample of healthy Italian men and women (n 5 178) and in a sample of healthy African-Ecuadorian
women (n 5 57). ESR1 xx and ppxx genotypes among the Italian men were found to be associated with an above-median
number of children (P 5 0.01 and P 5 0.004, respectively). ESR1 pp genotype among the Italian women showed a tendency to be
associated with a lower number of abortions (P 5 0.04), whereas ESR1 pp and ppxx genotypes among African-Ecuadorian women
were associated with a higher number of children (P 5 0.02 and P 5 0.03, respectively). These results are consistent with previous
observations indicating a role of ESR1 genotypes in human infertility and give insight into the complex interactions between genotypes
and reproductive behaviours in human populations
La ricerca biologica applicata ai Beni Culturali / Biological research applied to cultural heritage
No full textEstrogen receptor alpha (ESR1) polymorphisms and fertility in populations with different reproductive patterns.
No full textThe estrogen receptor (ER) plays an important role in mediating estrogen action on target tissues. ER-alpha, the most abundant, is found in all human reproductive tissues and studies on alpha-ER knockout mice have highlighted its role in reproduction. ER-alpha gene (ESR1) polymorphisms have been associated with a variety of disorders including human infertility. In this study, we examined the association of ESR1 Null and XbaI polymorphisms with fertility in two populations with different reproductive patterns and precisely in a sample of healthy Italian men and women (n = 178) and in a sample of healthy African-Ecuadorian women (n = 57). ESR1 xx and ppxx genotypes among the Italian men were found to be associated with an above-median number of children (P = 0.01 and P = 0.004, respectively). ESR1 pp genotype among the Italian women showed a tendency to be associated with a lower number of abortions (P = 0.04), whereas ESR1 pp and ppxx genotypes among African-Ecuadorian women were associated with a higher number of children (P = 0.02 and P = 0.03, respectively). These results are consistent with previous observations indicating a role of ESR1 genotypes in human infertility and give insight into the complex interactions between genotypes and reproductive behaviours in human populations
Distribución de las frecuencias alélicas de los marcadores genéticos ACP1, ADA y AK1 en la Comunidad Afroamericana de Rio Cayapas (Ecuador).
No full textLo studio antropologico come strumento d’indagine delle popolazioni del passato. La vita sulle ossa: Ricostruzione biologica dell’attività e dello stato di salute delle popolazioni del passato. Le prime analisi antropologiche sui resti scheletrici Altomedievali di Cencelle
No full textHuman mitochondrial DNA variation in Southern Italy
No full textBackground: Since prehistoric times Southern Italy has been a cultural crossroads of the Mediterranean
basin. Genetic data on the peoples of Basilicata and Calabria are scarce and, particularly, no records on
mtDNA variability have been published.
Aim: In this study mtDNA haplotypes of populations from Basilicata, Calabria and Sicily are compared
with those of other Italian and Mediterranean populations, so as to investigate their genetic
relationships.
Subjects and methods: A total of 341 individuals was analysed for mtDNA in order to provide their
classification into haplogroups. Multivariate analysis was used to compare the studied populations with
other Mediterranean samples; median-joining network analysis was applied to observe the relationship
between the major lineages of the Southern Italians.
Results: The haplogroup distribution in the Southern Italian samples falls within the typical pattern of
mtDNA variability of Western Eurasia. The comparison with other Mediterranean countries showed a
substantial homogeneity of the area, which is probably related to the historic contact through the
Mediterranean Sea.
Conclusion: The mtDNA analysis demonstrated that Southern Italy displays a typical pattern of
Mediterranean basin variability, even though it appears plausible that Southern Italy was less affected
by the effects of the Late Glacial Maximum, which reduced genetic diversity in Europe
- …
