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Kristīne Baumane, Liāna Pliss and Guna Laganovska

Atrial Natriuretic Peptide Gene and Plasma Pro-ANP Concentration in Patients with Primary Open-Angle Glaucoma

Atrial natriuretic peptide (ANP) appears to have a physiological role in volume and pressure homeostasis. Increased cardiac expression and synthesis of ANP suggest a possible local paracrine function in a number of tissues including the eye. Therefore, the identification of genetic markers may prove to be an important advance in the diagnosis of patients with glaucoma and hypertension. Plasma pro-ANP concentration was measured in 30 clinical patients. A significant elevated level of prehormone was observed in glaucoma patients with blood hypertension. Also, the distribution of the genotypes and alleles of the HpaII, SmaI and ScaI polymorphisms of the ANP gene was examined in 20 hypertensive patients with glaucoma and normotensive controls. The frequencies of the ANP genotypes and alleles did not differ significantly between controls and hypertensive patients. PCR-RFLP (polymerase chain reaction—restriction fragment length polymorphism) analysis shows a T2238→C transition in three hypertensive patients within the stop codon leading to the translation of ANP with an additional arginine. In the current study we also searched for any alterations in the 5' proximal promoter region of the ANP gene (-595 bp - -384 bp) in 20 glaucoma patients with hypertension using PCR-based SSCP (single-strand conformation polymorphism) analysis. No significant alterations in the 5' proximal promoter region of the ANP gene were observed among hypertensive patients. The structure of the ANP hormone encoded gene suggests potential importance in various diseases, but the regulatory function of ANP in the eye requires further investigations.

Open access

Astrīda Krūmiņa, Liāna Pliss, Gunita Zariņa, Agrita Puzuka, Agnese Zariņa, Baiba Lāce, Didzis Elferts, Andrey Khrunin, Svetlana Limborska, Jānis Kloviņš and Linda Gailīte Piekuse

Abstract

This article presents a review on population genetics of Latvians, which alongside Lithuanians are the two extant Baltic speaking populations. The article provides a description of genome-wide single nucleotide polymorphism (SNP) data and contains a comparative analysis of the results of studies performed on classical autosomal genetic markers, mitochondrial DNA (mtDNA) and the non-recombining part of the Y chromosome (NRY), with data on neighbouring populations. The study also covers data of recently performed ancient DNA (aDNA) studies carried out on samples from the territory of today’s Latvia. The results of population genetic studies have shown a mixture of eastern and western genetic traits in present-day Latvians with only small differences between Latvian subpopulations. Studies of the Baltic “tribal gene” LWb, as well as the gene’s SERPINA1 allele PIZ have indicated the presence of a considerable Baltic admixture in the neighbouring Finno-Ugric and Slavic populations. Although mtDNA analyses have shown that Latvians genetically in general belong to the same common gene pool as most of the Europeans, the Y-chromosomal lineage composition suggests that they are most similar to Northern and Eastern European populations of Lithuanians, Estonians, and Eastern-Slavic populations, which are ethnogenetically closest to them. The analysis of aDNA from the Early and Middle Neolithic did not present any genomic evidence of gene-flow from Central European farmers or any mitochondrial or Y-chromosomal haplogroups that are typical for them in the hunter-gatherers from the territory of today’s Latvia and Lithuania.

Open access

Asta Ščėsnaitė-Jerdiakova, Liāna Pliss, Guntis Gerhards, Elīna Pētersone Gordina, Agnija Gustiņa, Ilva Pole, Egija Zole, Jānis Ķimsis, Inta Jansone and Renāte Ranka

Abstract

Sex determination is one of the most important and initial steps in human profile identification from archaeological material. The aim of the current study was to evaluate the application of molecular approaches alongside morphological methods for sex determination in archaeological human skeletal remains. Human skeletal remains were excavated from three cemeteries: St Gertrude Old Church, Dom Square and St Peter’s Church, of 15th–17th century burials in Rīga, Latvia. Morphological and molecular genetic methods, including amplification of genes AMELX/Y and SRY were used to analyse seven skeletal remains. The conducted analyses of morphological features identified sex in all seven cases (two females and five males). By molecular analyses of mediaeval DNA it was possible to determine sex in five of seven (71%) samples. In all positive cases full agreement between morphological estimation and molecular genetic methods was observed. To conclude, DNA analysis can be considered for sex identification in cases with no signs of sexual dimorphism (juvenile skeletons) or partially preserved skeletons.