RESUMEN
Allele frequencies of 15 AmpFlSTR Identifiler STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) were analysed in a sample of 100 unrelated autochthonous Macedonian and 102 Macedonian Romani individuals, representing different ethnic groups residing within the same country of Former Yugoslav Republic of Macedonia. The interpopulation comparisons between Macedonians and Macedonian Romani with four south eastern European populations, Kosovo Albanians, Serbians from Vojvodina Province, western Romanians and northern Greeks were performed as well as comparison between Macedonian Romani and Assam population from Asia (India). Reported data point that Macedonian Romani, as an example of an endogamous population of Asian (Indian) origin, show significant allelic differences when compared to neighbouring south eastern European populations.
Asunto(s)
Etnicidad/genética , Genética de Población , Secuencias Repetidas en Tándem , Dermatoglifia del ADN , Frecuencia de los Genes , Humanos , Reacción en Cadena de la Polimerasa , República de Macedonia del NorteRESUMEN
Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) were analyzed in Macedonians (n = 84) and Macedonian Romani ethnic group (n = 68). Observed allelic frequency distribution and locus diversity values in Macedonians correspond closer to neighboring southeastern European populations than (mostly) western European populations, whereas observed allelic frequency distribution and locus diversity values in Macedonian Romani, as expected based on their Asian (Indian) origin, differ from both neighboring southeastern and (mostly) western European populations. Sixty-six (78.57%) haplotypes appeared in single copies in Macedonians and 15 (22.06%) in Macedonian Romani. The most frequent Macedonian haplotypes (DYS19-DYS385-DYS389I-DYS389II-DYS390-DYS391-DYS392-DYS393) 16-14/15-13-31-24-11-11-13 and 13-16/18-13-30-24-10-11-13 were found in 7 and 6 copies, respectively. The most frequent Macedonian Romani haplotype 15-15/17-14-29-22-10-11-12 was found in 18 males. Total haplotype diversity was 0.9885 +/- 0.0058 (Macedonians) and 0.9008 +/- 0.0242 (Macedonian Romani).
Asunto(s)
Cromosomas Humanos Y , Genética de Población , Secuencias Repetidas en Tándem , Adulto , Dermatoglifia del ADN , Etnicidad/genética , Frecuencia de los Genes , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , República de Macedonia del NorteRESUMEN
The extent and nature of southeastern Europe (SEE) paternal genetic contribution to the European genetic landscape were explored based on a high-resolution Y chromosome analysis involving 681 males from seven populations in the region. Paternal lineages present in SEE were compared with previously published data from 81 western Eurasian populations and 5,017 Y chromosome samples. The finding that five major haplogroups (E3b1, I1b* (xM26), J2, R1a, and R1b) comprise more than 70% of SEE total genetic variation is consistent with the typical European Y chromosome gene pool. However, distribution of major Y chromosomal lineages and estimated expansion signals clarify the specific role of this region in structuring of European, and particularly Slavic, paternal genetic heritage. Contemporary Slavic paternal gene pool, mostly characterized by the predominance of R1a and I1b* (xM26) and scarcity of E3b1 lineages, is a result of two major prehistoric gene flows with opposite directions: the post-Last Glacial Maximum R1a expansion from east to west, the Younger Dryas-Holocene I1b* (xM26) diffusion out of SEE in addition to subsequent R1a and I1b* (xM26) putative gene flows between eastern Europe and SEE, and a rather weak extent of E3b1 diffusion toward regions nowadays occupied by Slavic-speaking populations.
Asunto(s)
Cromosomas Humanos Y , Filogenia , Caracteres Sexuales , Población Blanca , Masculino , Pueblo Asiatico/genética , Europa (Continente) , Europa Oriental , Frecuencia de los Genes , Pool de Genes , Repeticiones de Microsatélite/genética , Población Blanca/genética , HumanosRESUMEN
Mitochondrial DNA polymorphisms were analyzed in of 1,610 randomly chosen adult men from 11 different regions from southeastern Europe (Croatians, Bosnians and Herzegovinians, Serbians, Macedonians and Macedonian Romani). MtDNA HVS-I region together with RFLP sites diagnostic for main Euroasian and African mtDNA haplogroups were typed to determine haplogroup frequency distribution. The most frequent haplogroup in studied populations was H with the exception of Macedonian Romani among whom the most frequent were South Asian (Indian) specific variants of haplogroup M. The multidimensional scaling plot showed two clusters of populations and two outliers (Macedonian Romani and the most distant from mainland Croatian island of Korcula). The first cluster was formed by populations from three Croatian islands (Hvar, Krk and Brac) and the second cluster was formed by Macedonians, Serbians, Croatians from mainland and coast, Herzegovinians, Bosnians, Slovenians, Poles and Russians. The present analysis does not address a precise evaluation of phylogenetic relations of studied populations although some conclusions about historical migrations could be noticed. More extended conclusions will be possible after deeper phylogenetic and statistical analyses.
