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Title: Genetic association between germline JAK2 polymorphisms and myeloproliferative neoplasms in Hong Kong Chinese population : a case–control study
Authors: Koh, SP
Yip, SP 
Lee, KK
Chan, CC
Lau, SM
Kho, CS
Lau, CK
Lin, SY
Lau, YM
Wong, LG
Au, KL
Wong, KF
Chu, RW
Yu, PH
Chow, EY
Leung, KF
Tsoi, WC
Yung, BYM 
Keywords: Myeloproliferative neoplasms
Janus Kinase 2 (JAK2)
V617F mutation
Single nucleotide polymorphisms
Genetic susceptibility
Issue Date: 20-Dec-2014
Publisher: BioMed Central Ltd
Source: BMC Genetics, 20 Dec. 2014, v. 15, 147, p.1-12 How to cite?
Journal: BMC Genetics 
Abstract: Background: The archeology and history of the ancient Mediterranean have shown that this sea has been a permeable obstacle to human migration. Multiple cultural exchanges around the Mediterranean have taken place with presumably population admixtures. A gravitational territory of those migrations has been the Iberian Peninsula. Here we present a comprehensive analysis of the maternal gene pool, by means of control region sequencing and PCR-RFLP typing, of autochthonous Andalusians originating from the coastal provinces of Huelva and Granada, located respectively in the west and the east of the region.
Results: The mtDNA haplogroup composition of these two southern Spanish populations has revealed a wide spectrum of haplogroups from different geographical origins. The registered frequencies of Eurasian markers, together with the high incidence and diversification of African maternal lineages (15% of the total mitochondrial variability) among Huelva Andalusians when compared to its eastwards relatives of Granada and other Iberian populations, constitute relevant findings unknown up-to-date on the characteristics of mtDNA within Andalusia that testifies a female population substructure. Therefore, Andalusia must not be considered a single, unique population.
Conclusions: The maternal legacy among Andalusians reflects distinctive local histories, pointing out the role of the westernmost territory of Peninsular Spain as a noticeable recipient of multiple and diverse human migrations. The obtained results underline the necessity of further research on genetic relationships in both sides of the western Mediterranean, using carefully collected samples from autochthonous individuals. Many studies have focused on recent North African gene flow towards Iberia, yet scientific attention should be now directed to thoroughly study the introduction of European genes in northwest Africa across the sea, in order to determine its magnitude, timescale and methods, and to compare them to those terrestrial movements from eastern Africa and southwestern Asia.
ISSN: 1471-2156
DOI: 10.1186/s12863-014-0147-y
Rights: © 2014 Koh et al.; licensee BioMed Central. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
The following publication Koh, S. P., Yip, S. P., Lee, K. K., Chan, C. C., Lau, S. M., Kho, C. S., ... & Yung, B. Y. (2014). Genetic association between germline JAK2 polymorphisms and myeloproliferative neoplasms in Hong Kong Chinese population: a case–control study. BMC genetics, 15(1), 147 is available at
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