Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING
Noveski P, Trivodalieva S, Efremov GD, Plaseska-Karanfilska D*
*Corresponding Author: Dijana Plaseska-Karanfilska, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Av. Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel.: +389-2-3235-410; Fax: +389-2-3115-434; E-mail: dijana@manu.edu.mk
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DISCUSSION

The R. Macedonia has a multiethnic population consisting of Macedonians (64.2%), Albanians (25.2%) and Roma, Serbs, Turks, Aromuns and others (10.6%) (2002 census). The most common Y haplogroups in this population are E1b1b1a-M78, I2a-P37b, J2b2-M241, R1a1-SRY1532 and R1b1-P25. Y haplogroup composition of the population conforms with previous findings in the Southeast European (SEE) population [10].

The Y haplogroup E1b1b1a-M78 was the most frequent haplogroup in Albanians and the Roma, Serb or Turk group, but was second in frequency in Macedonians. It is the most common haplogroup E lineage in Europe with a frequency peak centered in the Balkans [11,12]. It is also found in the Middle East and in eastern and northern Africa. Its frequency in Kosovar Albanians (46%) and Macedonian Roma (30%) is most likely a result of genetic drift [10].

The most frequent haplogroup in Macedonian males is I2a-P37b (27.5%), which has maximum frequency in Herzegovinians (64%) and Bosnians (52%) and substantial frequencies in all SEE populations except for two reproductively isolated and non slavic speaking populations, Kosovar Albanians and Macedonian Romani [10]. In the Albanians in Macedonia, I2a-P37b had a very low frequency (1.8%) (Table 3), similar to Albanians from Kosovo (2.7%) and different from Albanians in Albania (17%) [10].

The R1b1-P25 haplogroup showed an overall frequency of 14.3%, being 18.0% in Albanian and 11.4% in Macedonian subjects. This lineage shows a frequency peak (40-80%) in western Europe and decreases in eastern (with the exception of 43% in the Ossetians) and southern Europe [13,14]. However, it shows two intermediate local peaks in mainland Croatians and Serbians, and among Kosovar Albanians, Albanians and Greeks [10].

The R1a1-SRY1532 haplogroup showed similar frequencies in Macedonians and Albanians and was less frequent in the Roma, Serb or Turk groups. The frequency in Macedonia agrees with that of 16% determined in SEE [10]. Its distribution increases from west to east with peaks in Finno-Ugric and Slavic populations. R1a1-SRY1532 frequency decreases slowly to the south of Europe.

Haplogroup J is defined by a 12f2 polymorphism and has two major subclades, J1-M267 and J2-M172, of which the latter is more prevalent in Europe [15]. The J2b-M102 lineages are more frequent in SEE comprising 5% of all chromosomes, with a peak in Kosovar Albanians [10]. The J2a4b-M67 cluster is predominant in Greeks and Italians [16]. The J2b2-M241 was the fifth most frequent Y haplogroup in the populations of R. Macedonia due to its high prevalence in Albanians (13.5%).

The most significant difference (p <0.0001) was found in the case of Hgr I2a-P37b, which was prevalent (27.5%) in Macedonians and infrequent in Albanians (1.8%). Although present at a relatively low frequency in both groups, I1-M253 was significantly more frequent in Albanians (6.3 vs. 1.9% in Macedonians, p = 0.0383). The E1b1b1a-M78 haplogroup was statistically more frequent in Albanians (28.8 vs. 15.6% in Macedonians, p = 0.0050). The same applies to J2b2-M241 (13.5 vs. 5.2%), being more common in Albanians (p = 0.0093). The R1a1 and R1b1 haplogroups were present with similar frequencies in both populations.

In conclusion, we have developed a simple, robust and efficient Y-SNP typing assay that can find application in evolutionary and forensic studies in the major ethnic groups of R. Macedonia. The hierarchical strategy using the SNaPshot multiplex kit (Applied Biosystems) made Y chromosome SNP typing rapid and inexpensive.




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