khanabadoshi
04-20-2017, 07:33 PM
Genetic characterization of the Makrani people of Pakistan from mitochondrial DNA control-region data (https://www.academia.edu/9105102/Genetic_characterization_of_the_Makrani_people_of_ Pakistan_from_mitochondrial_DNA_control-region_data?auto=download)
https://i.gyazo.com/2c71dffd68c479aae20eec6b8a03d188.png
https://i.gyazo.com/05e7d29d33261aba8936793eab888645.png
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https://i.gyazo.com/7efedc87bb7e0792d3da3922dfb2c659.png
https://i.gyazo.com/6871b8b71f3be2bb1c1f110e9af11f87.png
Results: In this study, we report the population data of 100 samples from Makrani population for the entire mtDNA control region (spanning positions 16,024–16,569 and 1–576). Seventy different haplotypes (of which 54 unique haplotypes) were observed in this sample size with 149 variable sites in the control region. The detected mtDNA haplotypes, their respective frequencies and haplogroups are presented in Table2. The Makrani population showed mtDNA genetic diversity (0.9688) random match probability (0.0408) and power of discrimination (0.9592) as given in Table 3. We compared the population genetics parameters of the Makrani population with the other studied ethnic groups of Pakistan and observed that the Makrani population presented a moderate number of unique haplotypes (54) consistent with two other Pakistani ethnic groups including Saraiki (58) and Pakistani-Karachi (63). However, the highest number of unique haplotypes (128) has been reported previously in Pathans [3] as shown in (Table 4), but this was based on a larger sample size (n = 230). Furthermore, the high number of unique haplotypes in the Pathan population is also reflected in high genetic diversity (0.993) among different ethnic groups of Pakistan, closely followed by Hazara (0.992), Sindhi (0.992) and Pakistani-Karachi (0.992) (Table4)in comparison to Makrani population (0.968) investigated during present study. Two haplotypes observed in the Makrani, both carrying a characteristic combination of two mutations in HVS-II (154C and 194T) could not be confidently assigned to a known (sub) haplogroup, although the presence of both 16223T and 489C indicate membership within macrohaplogroup M; this lineage was therefore tentatively assigned to haplogroup ‘‘M-154-194’’. Future studies, performing complete mitogenome sequencing, will be needed to elucidate the precise phylogenetic position of this lineage.
Other remarks: By comparing with the revised Cambridge Reference Sequence (rCRS) [22], transitions (90.77%), transversions (7.02%), insertions (0.97%) and deletions (0.2%) were observed in this population. Out of the 70 haplotypes, 54 unique haplotypes were observed while 16 haplotypes were shared by more than one individual (Table 2). The most frequent haplogroup observed in this population is L2a1b1a (a southeastern African haplogroup found mostly in Mozambique) carried by 11% of the sample (Fig. 2), in agreement with a previously published study [23] showing a high degree of genetic association with southeast Africans. In our population data, we observed African haplogroups (28%) including L2a1b1a (11%), L2a1 (5%), L3d1a1a (3%), L2ba1 (1%), L3f1b4a (1%), L4b2a2 (1%), M1a1 (1%), L0a1b (1%), L1c2a1a (1%), L4b2b1 (1%), L2a1a2 (1%), L0a2a2 (1%); West Eurasian haplogroups (26%) including U7a (6%), T1a8a (5%), U5b (2%), J1d (2%), HV2a (2%), T1a7 (1%), U4c1 (1%), U4‘9(1%), J1b1b (1%), W6 (1%), T2 (1%), T1a103 (1%), J2a2 (1%), J1b1a1 (1%); South Asian haplogroups (24%) including R2 (6.0%), R30a1b (5%), M3 (3%), M4 (3%), U2b1 (3%), M3a1 (1%) M6a1b (1%), M18a (1%), U2a (1%); and one East Asian haplogroup (2%), F3b1. The remaining 20% mtDNA of the sampled individuals could not be confidently assigned a continental origin.
Accession numbers: The mtDNA control-region sequences herein reported are available in GenBank under accession numbers KM358171–KM358269.
https://i.gyazo.com/2c71dffd68c479aae20eec6b8a03d188.png
https://i.gyazo.com/05e7d29d33261aba8936793eab888645.png
https://i.gyazo.com/94eedc9822b5af6485be72f367933e7d.png
https://i.gyazo.com/7efedc87bb7e0792d3da3922dfb2c659.png
https://i.gyazo.com/6871b8b71f3be2bb1c1f110e9af11f87.png
Results: In this study, we report the population data of 100 samples from Makrani population for the entire mtDNA control region (spanning positions 16,024–16,569 and 1–576). Seventy different haplotypes (of which 54 unique haplotypes) were observed in this sample size with 149 variable sites in the control region. The detected mtDNA haplotypes, their respective frequencies and haplogroups are presented in Table2. The Makrani population showed mtDNA genetic diversity (0.9688) random match probability (0.0408) and power of discrimination (0.9592) as given in Table 3. We compared the population genetics parameters of the Makrani population with the other studied ethnic groups of Pakistan and observed that the Makrani population presented a moderate number of unique haplotypes (54) consistent with two other Pakistani ethnic groups including Saraiki (58) and Pakistani-Karachi (63). However, the highest number of unique haplotypes (128) has been reported previously in Pathans [3] as shown in (Table 4), but this was based on a larger sample size (n = 230). Furthermore, the high number of unique haplotypes in the Pathan population is also reflected in high genetic diversity (0.993) among different ethnic groups of Pakistan, closely followed by Hazara (0.992), Sindhi (0.992) and Pakistani-Karachi (0.992) (Table4)in comparison to Makrani population (0.968) investigated during present study. Two haplotypes observed in the Makrani, both carrying a characteristic combination of two mutations in HVS-II (154C and 194T) could not be confidently assigned to a known (sub) haplogroup, although the presence of both 16223T and 489C indicate membership within macrohaplogroup M; this lineage was therefore tentatively assigned to haplogroup ‘‘M-154-194’’. Future studies, performing complete mitogenome sequencing, will be needed to elucidate the precise phylogenetic position of this lineage.
Other remarks: By comparing with the revised Cambridge Reference Sequence (rCRS) [22], transitions (90.77%), transversions (7.02%), insertions (0.97%) and deletions (0.2%) were observed in this population. Out of the 70 haplotypes, 54 unique haplotypes were observed while 16 haplotypes were shared by more than one individual (Table 2). The most frequent haplogroup observed in this population is L2a1b1a (a southeastern African haplogroup found mostly in Mozambique) carried by 11% of the sample (Fig. 2), in agreement with a previously published study [23] showing a high degree of genetic association with southeast Africans. In our population data, we observed African haplogroups (28%) including L2a1b1a (11%), L2a1 (5%), L3d1a1a (3%), L2ba1 (1%), L3f1b4a (1%), L4b2a2 (1%), M1a1 (1%), L0a1b (1%), L1c2a1a (1%), L4b2b1 (1%), L2a1a2 (1%), L0a2a2 (1%); West Eurasian haplogroups (26%) including U7a (6%), T1a8a (5%), U5b (2%), J1d (2%), HV2a (2%), T1a7 (1%), U4c1 (1%), U4‘9(1%), J1b1b (1%), W6 (1%), T2 (1%), T1a103 (1%), J2a2 (1%), J1b1a1 (1%); South Asian haplogroups (24%) including R2 (6.0%), R30a1b (5%), M3 (3%), M4 (3%), U2b1 (3%), M3a1 (1%) M6a1b (1%), M18a (1%), U2a (1%); and one East Asian haplogroup (2%), F3b1. The remaining 20% mtDNA of the sampled individuals could not be confidently assigned a continental origin.
Accession numbers: The mtDNA control-region sequences herein reported are available in GenBank under accession numbers KM358171–KM358269.